http://identifiers.org/exac.variant/12-40044107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044107
    reference: chr 12
allele count: 1
allele frequency: 8.787964004499438e-6
allele num: 113792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.637C>A
  hgvsp: ENSP00000317671.5:p.Pro213Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.406C>A
  hgvsp: ENSP00000473371.1:p.Pro136Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.637C>A
  hgvsp: ENSP00000383897.3:p.Pro213Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.406C>A
  hgvsp: ENSP00000381701.1:p.Pro136Thr
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro213Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-40044109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044109
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044109
    reference: chr 12
allele count: 1
allele frequency: 8.802971883307805e-6
allele num: 113598
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.639A>G
  hgvsp: ENST00000324616.5:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.408A>G
  hgvsp: ENST00000468200.2:c.408A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.639A>G
  hgvsp: ENST00000405531.3:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.408A>G
  hgvsp: ENST00000398716.1:c.408A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro213Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-40044121-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044121
    reference: chr 12
allele count: 1
allele frequency: 8.8386070355312e-6
allele num: 113140
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.651T>C
  hgvsp: ENST00000324616.5:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.420T>C
  hgvsp: ENST00000468200.2:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.651T>C
  hgvsp: ENST00000405531.3:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.420T>C
  hgvsp: ENST00000398716.1:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1199
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39259
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr217Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-40044125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044125
    reference: chr 12
allele count: 1
allele frequency: 8.86713485138682e-6
allele num: 112776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.424C>T
  hgvsp: ENSP00000473371.1:p.Arg142Ter
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.655C>T
  hgvsp: ENSP00000383897.3:p.Arg219Ter
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.424C>T
  hgvsp: ENSP00000381701.1:p.Arg142Ter
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.655C>T
  hgvsp: ENSP00000317671.5:p.Arg219Ter
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg219Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-40044126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044126
    reference: chr 12
allele count: 27
allele frequency: 2.393489707994256e-4
allele num: 112806
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.656G>A
  hgvsp: ENSP00000317671.5:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.425G>A
  hgvsp: ENSP00000381701.1:p.Arg142Gln
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.656G>A
  hgvsp: ENSP00000383897.3:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.425G>A
  hgvsp: ENSP00000473371.1:p.Arg142Gln
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12647
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29391
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6202
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38913
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg219Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-40044133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044133
    reference: chr 12
allele count: 3
allele frequency: 2.682883205151136e-5
allele num: 111820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.432G>A
  hgvsp: ENST00000398716.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.432G>A
  hgvsp: ENST00000468200.2:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.663G>A
  hgvsp: ENST00000324616.5:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.663G>A
  hgvsp: ENST00000405531.3:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28190
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5841
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly221Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

12-40044133-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044133
    reference: chr 12
allele count: 2
allele frequency: 1.788588803434091e-5
allele num: 111820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.663G>T
  hgvsp: ENST00000405531.3:c.663G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.432G>T
  hgvsp: ENST00000398716.1:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.432G>T
  hgvsp: ENST00000468200.2:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.663G>T
  hgvsp: ENST00000324616.5:c.663G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5841
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly221Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/12-40044151-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044151
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044151
    reference: chr 12
allele count: 1
allele frequency: 9.208951100469656e-6
allele num: 108590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.450A>C
  hgvsp: ENSP00000381701.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.681A>C
  hgvsp: ENSP00000317671.5:p.Leu227Phe
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.681A>C
  hgvsp: ENSP00000383897.3:p.Leu227Phe
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.450A>C
  hgvsp: ENSP00000473371.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu227Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-40044154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044154
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044154
    reference: chr 12
allele count: 1
allele frequency: 9.295926524996746e-6
allele num: 107574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.684C>T
  hgvsp: ENST00000405531.3:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.684C>T
  hgvsp: ENST00000324616.5:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.453C>T
  hgvsp: ENST00000398716.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.453C>T
  hgvsp: ENST00000468200.2:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 7.25e1
  variant carriers: 0
hgvs: c.684C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

12-40044160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044160
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044160
    reference: chr 12
allele count: 1
allele frequency: 9.478133944988911e-6
allele num: 105506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+4A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+4A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+4A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+4A>G
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
hgvs: c.686+4A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

12-40044177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044177
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044177
    reference: chr 12
allele count: 1
allele frequency: 1.007780062079252e-5
allele num: 99228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+21A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+21A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+21A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+21A>G
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6173
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-40044184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044184
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044184
    reference: chr 12
allele count: 1
allele frequency: 1.039068994181214e-5
allele num: 96240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+28G>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+28G>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+28G>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+28G>A
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-40044188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044188
    reference: chr 12
allele count: 1
allele frequency: 1.094283463188304e-5
allele num: 91384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+32C>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+32C>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+32C>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+32C>T
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-40044193-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044193
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044193
    reference: chr 12
allele count: 1
allele frequency: 1.099843822177251e-5
allele num: 90922
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+37G>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+37G>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+37G>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+37G>T
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-40044194-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044194
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044194
    reference: chr 12
allele count: 1
allele frequency: 1.105998938241019e-5
allele num: 90416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+38C>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+38C>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+38C>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+38C>A
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4399
  bin: 2.75e1
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-40044195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044195
    reference: chr 12
allele count: 1
allele frequency: 1.103241323006995e-5
allele num: 90642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+39A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+39A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+39A>G
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+39A>G
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

12-40044201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40044201
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40044201
    reference: chr 12
allele count: 1
allele frequency: 1.181306998062657e-5
allele num: 84652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.686+45T>C
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.455+45T>C
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.686+45T>C
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.455+45T>C
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13131
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

12-40076376-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076376
    reference: chr 12
allele count: 1
allele frequency: 9.510766187324051e-6
allele num: 105144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.456-37G>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.687-37G>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.687-37G>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.456-37G>T
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-40076377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076377
    reference: chr 12
allele count: 1
allele frequency: 9.500826571911757e-6
allele num: 105254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.456-36C>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.456-36C>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.687-36C>T
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.687-36C>T
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6199
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 293
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2005
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-40076394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076394
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076394
    reference: chr 12
allele count: 1
allele frequency: 9.260116677470136e-6
allele num: 107990
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.687-19G>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.456-19G>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.687-19G>A
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.456-19G>A
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

12-40076396-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076396
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076392
    reference: chr 12
allele count: 2
allele frequency: 1.847336141284268e-5
allele num: 108264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.456-13_456-10delGTTT
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.687-13_687-10delGTTT
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.456-13_456-10delGTTT
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.687-13_687-10delGTTT
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
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: TTTTG
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-40076402-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076402
    reference: chr 12
allele count: 1
allele frequency: 9.165062780680048e-6
allele num: 109110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.456-11T>C
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.456-11T>C
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.687-11T>C
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.687-11T>C
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-40076428-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076428
    reference: chr 12
allele count: 12
allele frequency: 1.05777197962026e-4
allele num: 113446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.702T>C
  hgvsp: ENST00000324616.5:c.702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.471T>C
  hgvsp: ENST00000398716.1:c.471T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.702T>C
  hgvsp: ENST00000405531.3:c.702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.471T>C
  hgvsp: ENST00000468200.2:c.471T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29191
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn234Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-40076433-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076433
    reference: chr 12
allele count: 1
allele frequency: 8.743398733955863e-6
allele num: 114372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.707T>G
  hgvsp: ENSP00000317671.5:p.Leu236Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.476T>G
  hgvsp: ENSP00000381701.1:p.Leu159Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.476T>G
  hgvsp: ENSP00000473371.1:p.Leu159Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.707T>G
  hgvsp: ENSP00000383897.3:p.Leu236Arg
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15860
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu236Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-40076436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076436
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076436
    reference: chr 12
allele count: 1
allele frequency: 8.70852564660803e-6
allele num: 114830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.479C>T
  hgvsp: ENSP00000381701.1:p.Thr160Ile
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.710C>T
  hgvsp: ENSP00000383897.3:p.Thr237Ile
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.710C>T
  hgvsp: ENSP00000317671.5:p.Thr237Ile
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.479C>T
  hgvsp: ENSP00000473371.1:p.Thr160Ile
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr237Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-40076448-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076448
    reference: chr 12
allele count: 1
allele frequency: 8.522969402539845e-6
allele num: 117330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.722C>G
  hgvsp: ENSP00000383897.3:p.Ala241Gly
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.491C>G
  hgvsp: ENSP00000381701.1:p.Ala164Gly
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.722C>G
  hgvsp: ENSP00000317671.5:p.Ala241Gly
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.491C>G
  hgvsp: ENSP00000473371.1:p.Ala164Gly
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala241Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

12-40076448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076448
    reference: chr 12
allele count: 2
allele frequency: 1.704593880507969e-5
allele num: 117330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.491C>T
  hgvsp: ENSP00000381701.1:p.Ala164Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.722C>T
  hgvsp: ENSP00000383897.3:p.Ala241Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.722C>T
  hgvsp: ENSP00000317671.5:p.Ala241Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.491C>T
  hgvsp: ENSP00000473371.1:p.Ala164Val
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala241Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-40076454-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076454
    reference: chr 12
allele count: 1
allele frequency: 8.465393471488555e-6
allele num: 118128
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.728T>G
  hgvsp: ENSP00000317671.5:p.Ile243Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.728T>G
  hgvsp: ENSP00000383897.3:p.Ile243Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.497T>G
  hgvsp: ENSP00000473371.1:p.Ile166Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.497T>G
  hgvsp: ENSP00000381701.1:p.Ile166Ser
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile243Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-40076459-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076459
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076459
    reference: chr 12
allele count: 36
allele frequency: 3.034850196422249e-4
allele num: 118622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.733G>C
  hgvsp: ENSP00000383897.3:p.Asp245His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.502G>C
  hgvsp: ENSP00000381701.1:p.Asp168His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.733G>C
  hgvsp: ENSP00000317671.5:p.Asp245His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.502G>C
  hgvsp: ENSP00000473371.1:p.Asp168His
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31294
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Asp245His
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

12-40076468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076468
    reference: chr 12
allele count: 1
allele frequency: 8.379701012267883e-6
allele num: 119336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.742T>C
  hgvsp: ENSP00000317671.5:p.Cys248Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.742T>C
  hgvsp: ENSP00000383897.3:p.Cys248Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.511T>C
  hgvsp: ENSP00000381701.1:p.Cys171Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.511T>C
  hgvsp: ENSP00000473371.1:p.Cys171Arg
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys248Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-40076470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076470
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076470
    reference: chr 12
allele count: 1
allele frequency: 8.364421098415779e-6
allele num: 119554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.744T>C
  hgvsp: ENST00000405531.3:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.744T>C
  hgvsp: ENST00000324616.5:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.513T>C
  hgvsp: ENST00000398716.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.513T>C
  hgvsp: ENST00000468200.2:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys248Cys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-40076471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076471
    reference: chr 12
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.514A>G
  hgvsp: ENSP00000473371.1:p.Arg172Gly
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.745A>G
  hgvsp: ENSP00000383897.3:p.Arg249Gly
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.514A>G
  hgvsp: ENSP00000381701.1:p.Arg172Gly
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.745A>G
  hgvsp: ENSP00000317671.5:p.Arg249Gly
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg249Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-40076478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076478
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076478
    reference: chr 12
allele count: 1
allele frequency: 8.334027835652971e-6
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.752C>T
  hgvsp: ENSP00000383897.3:p.Thr251Met
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.752C>T
  hgvsp: ENSP00000317671.5:p.Thr251Met
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.521C>T
  hgvsp: ENSP00000381701.1:p.Thr174Met
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.521C>T
  hgvsp: ENSP00000473371.1:p.Thr174Met
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr251Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-40076479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076479
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076479
    reference: chr 12
allele count: 4
allele frequency: 3.331501007779055e-5
allele num: 120066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.522G>A
  hgvsp: ENST00000468200.2:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.753G>A
  hgvsp: ENST00000405531.3:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.753G>A
  hgvsp: ENST00000324616.5:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.522G>A
  hgvsp: ENST00000398716.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr251Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-40076481-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076481
    reference: chr 12
allele count: 13
allele frequency: 1.08210694546181e-4
allele num: 120136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.524A>T
  hgvsp: ENSP00000473371.1:p.Asp175Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.524A>T
  hgvsp: ENSP00000381701.1:p.Asp175Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.755A>T
  hgvsp: ENSP00000383897.3:p.Asp252Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.755A>T
  hgvsp: ENSP00000317671.5:p.Asp252Val
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 445
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp252Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

12-40076485-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076485
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076485
    reference: chr 12
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.528A>G
  hgvsp: ENST00000398716.1:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.759A>G
  hgvsp: ENST00000324616.5:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.759A>G
  hgvsp: ENST00000405531.3:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.528A>G
  hgvsp: ENST00000468200.2:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu253Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-40076486-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076486
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076486
    reference: chr 12
allele count: 5
allele frequency: 4.158073315148693e-5
allele num: 120248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.529A>G
  hgvsp: ENSP00000381701.1:p.Ile177Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.529A>G
  hgvsp: ENSP00000473371.1:p.Ile177Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.760A>G
  hgvsp: ENSP00000317671.5:p.Ile254Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.760A>G
  hgvsp: ENSP00000383897.3:p.Ile254Val
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile254Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

12-40076494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076494
    reference: chr 12
allele count: 17
allele frequency: 1.412499792279442e-4
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.537G>A
  hgvsp: ENST00000468200.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.768G>A
  hgvsp: ENST00000405531.3:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.537G>A
  hgvsp: ENST00000398716.1:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.768G>A
  hgvsp: ENST00000324616.5:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln256Gln
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

12-40076495-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076495
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076495
    reference: chr 12
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.538T>A
  hgvsp: ENSP00000381701.1:p.Ser180Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.538T>A
  hgvsp: ENSP00000473371.1:p.Ser180Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.769T>A
  hgvsp: ENSP00000317671.5:p.Ser257Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.769T>A
  hgvsp: ENSP00000383897.3:p.Ser257Thr
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser257Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-40076508-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076508
    reference: chr 12
allele count: 4
allele frequency: 3.319502074688797e-5
allele num: 120500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.551C>G
  hgvsp: ENSP00000381701.1:p.Thr184Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.551C>G
  hgvsp: ENSP00000473371.1:p.Thr184Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.782C>G
  hgvsp: ENSP00000383897.3:p.Thr261Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.782C>G
  hgvsp: ENSP00000317671.5:p.Thr261Ser
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr261Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-40076508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076508
    reference: chr 12
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.551C>T
  hgvsp: ENSP00000473371.1:p.Thr184Ile
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.782C>T
  hgvsp: ENSP00000317671.5:p.Thr261Ile
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.551C>T
  hgvsp: ENSP00000381701.1:p.Thr184Ile
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.782C>T
  hgvsp: ENSP00000383897.3:p.Thr261Ile
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr261Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-40076516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076516
    reference: chr 12
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.790C>A
  hgvsp: ENSP00000317671.5:p.His264Asn
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.559C>A
  hgvsp: ENSP00000381701.1:p.His187Asn
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.790C>A
  hgvsp: ENSP00000383897.3:p.His264Asn
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.559C>A
  hgvsp: ENSP00000473371.1:p.His187Asn
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7448
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His264Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-40076518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076518
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076518
    reference: chr 12
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.792C>T
  hgvsp: ENST00000405531.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.792C>T
  hgvsp: ENST00000324616.5:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.561C>T
  hgvsp: ENST00000398716.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.561C>T
  hgvsp: ENST00000468200.2:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His264His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-40076522-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076522
    reference: chr 12
allele count: 18
allele frequency: 1.493156366652841e-4
allele num: 120550
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.796A>G
  hgvsp: ENSP00000317671.5:p.Ile266Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.565A>G
  hgvsp: ENSP00000381701.1:p.Ile189Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.796A>G
  hgvsp: ENSP00000383897.3:p.Ile266Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.565A>G
  hgvsp: ENSP00000473371.1:p.Ile189Val
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile266Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

12-40076525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076525
    reference: chr 12
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.568C>T
  hgvsp: ENSP00000473371.1:p.Gln190Ter
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.799C>T
  hgvsp: ENSP00000383897.3:p.Gln267Ter
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.568C>T
  hgvsp: ENSP00000381701.1:p.Gln190Ter
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.799C>T
  hgvsp: ENSP00000317671.5:p.Gln267Ter
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln267Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-40076537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076537
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076537
    reference: chr 12
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.580G>A
  hgvsp: ENSP00000473371.1:p.Gly194Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.580G>A
  hgvsp: ENSP00000381701.1:p.Gly194Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.811G>A
  hgvsp: ENSP00000383897.3:p.Gly271Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.811G>A
  hgvsp: ENSP00000317671.5:p.Gly271Arg
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly271Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-40076539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076539
    reference: chr 12
allele count: 24
allele frequency: 1.990610951677919e-4
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.813G>A
  hgvsp: ENST00000405531.3:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.582G>A
  hgvsp: ENST00000468200.2:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.582G>A
  hgvsp: ENST00000398716.1:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.813G>A
  hgvsp: ENST00000324616.5:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7454
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly271Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

12-40076557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076557
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076557
    reference: chr 12
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.831T>C
  hgvsp: ENST00000405531.3:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.831T>C
  hgvsp: ENST00000324616.5:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.600T>C
  hgvsp: ENST00000398716.1:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.600T>C
  hgvsp: ENST00000468200.2:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val277Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-40076566-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076566
    reference: chr 12
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.840T>G
  hgvsp: ENSP00000383897.3:p.Phe280Leu
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.840T>G
  hgvsp: ENSP00000317671.5:p.Phe280Leu
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.609T>G
  hgvsp: ENSP00000381701.1:p.Phe203Leu
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.609T>G
  hgvsp: ENSP00000473371.1:p.Phe203Leu
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe280Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

12-40076573-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076573
    reference: chr 12
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.616G>C
  hgvsp: ENSP00000381701.1:p.Asp206His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.847G>C
  hgvsp: ENSP00000383897.3:p.Asp283His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.847G>C
  hgvsp: ENSP00000317671.5:p.Asp283His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.616G>C
  hgvsp: ENSP00000473371.1:p.Asp206His
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp283His
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: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

12-40076581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076581
    reference: chr 12
allele count: 2
allele frequency: 1.65977858553669e-5
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.855C>T
  hgvsp: ENST00000405531.3:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.624C>T
  hgvsp: ENST00000398716.1:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.855C>T
  hgvsp: ENST00000324616.5:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.624C>T
  hgvsp: ENST00000468200.2:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn285Asn
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-40076585-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076585
    reference: chr 12
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.859T>C
  hgvsp: ENSP00000317671.5:p.Ser287Pro
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.628T>C
  hgvsp: ENSP00000473371.1:p.Ser210Pro
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.628T>C
  hgvsp: ENSP00000381701.1:p.Ser210Pro
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.859T>C
  hgvsp: ENSP00000383897.3:p.Ser287Pro
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser287Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

12-40076587-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076587
    reference: chr 12
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.861T>G
  hgvsp: ENST00000324616.5:c.861T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.630T>G
  hgvsp: ENST00000398716.1:c.630T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.861T>G
  hgvsp: ENST00000405531.3:c.861T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.630T>G
  hgvsp: ENST00000468200.2:c.630T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser287Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-40076589-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076590
    reference: chr 12
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.864dupT
  hgvsp: ENSP00000317671.5:p.Pro289SerfsTer2
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.864dupT
  hgvsp: ENSP00000383897.3:p.Pro289SerfsTer2
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.633dupT
  hgvsp: ENSP00000381701.1:p.Pro212SerfsTer2
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.633dupT
  hgvsp: ENSP00000473371.1:p.Pro212SerfsTer2
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7401
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro289SerfsTer2
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

12-40076591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076591
    reference: chr 12
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.865C>T
  hgvsp: ENSP00000383897.3:p.Pro289Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.865C>T
  hgvsp: ENSP00000317671.5:p.Pro289Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.634C>T
  hgvsp: ENSP00000381701.1:p.Pro212Ser
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.634C>T
  hgvsp: ENSP00000473371.1:p.Pro212Ser
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro289Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/12-40076592-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076592
    reference: chr 12
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.635C>A
  hgvsp: ENSP00000473371.1:p.Pro212His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.635C>A
  hgvsp: ENSP00000381701.1:p.Pro212His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.866C>A
  hgvsp: ENSP00000317671.5:p.Pro289His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.866C>A
  hgvsp: ENSP00000383897.3:p.Pro289His
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro289His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS

12-40076593-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076593
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076593
    reference: chr 12
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.636T>A
  hgvsp: ENST00000468200.2:c.636T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.867T>A
  hgvsp: ENST00000324616.5:c.867T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.636T>A
  hgvsp: ENST00000398716.1:c.636T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.867T>A
  hgvsp: ENST00000405531.3:c.867T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31223
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro289Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-40076596-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076593
    reference: chr 12
allele count: 2
allele frequency: 1.66021948101539e-5
allele num: 120466
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.873_875delTCT
  hgvsp: ENSP00000317671.5:p.Leu292del
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.873_875delTCT
  hgvsp: ENSP00000383897.3:p.Leu292del
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.642_644delTCT
  hgvsp: ENSP00000473371.1:p.Leu215del
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.642_644delTCT
  hgvsp: ENSP00000381701.1:p.Leu215del
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43169
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu292del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: CCTT
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-40076602-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076602
    reference: chr 12
allele count: 12
allele frequency: 9.962805526036131e-5
allele num: 120448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.645A>G
  hgvsp: ENST00000398716.1:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.876A>G
  hgvsp: ENST00000324616.5:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.645A>G
  hgvsp: ENST00000468200.2:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.876A>G
  hgvsp: ENST00000405531.3:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu292Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/12-40076610-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076610
    reference: chr 12
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.653A>C
  hgvsp: ENSP00000381701.1:p.Asn218Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.653A>C
  hgvsp: ENSP00000473371.1:p.Asn218Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.884A>C
  hgvsp: ENSP00000383897.3:p.Asn295Thr
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.884A>C
  hgvsp: ENSP00000317671.5:p.Asn295Thr
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn295Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

12-40076619-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076619
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076619
    reference: chr 12
allele count: 4
allele frequency: 3.322148765821733e-5
allele num: 120404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.662C>G
  hgvsp: ENSP00000473371.1:p.Ser221Cys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.893C>G
  hgvsp: ENSP00000317671.5:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.662C>G
  hgvsp: ENSP00000381701.1:p.Ser221Cys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.893C>G
  hgvsp: ENSP00000383897.3:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser298Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-40076619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076619
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076619
    reference: chr 12
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.893C>T
  hgvsp: ENSP00000383897.3:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.662C>T
  hgvsp: ENSP00000473371.1:p.Ser221Phe
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.662C>T
  hgvsp: ENSP00000381701.1:p.Ser221Phe
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.893C>T
  hgvsp: ENSP00000317671.5:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser298Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-40076623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076623
    reference: chr 12
allele count: 4
allele frequency: 3.322093583376244e-5
allele num: 120406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.897T>C
  hgvsp: ENST00000324616.5:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.897T>C
  hgvsp: ENST00000405531.3:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.666T>C
  hgvsp: ENST00000398716.1:c.666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.666T>C
  hgvsp: ENST00000468200.2:c.666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe299Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-40076627-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076627
    reference: chr 12
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.670A>T
  hgvsp: ENSP00000381701.1:p.Ser224Cys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.901A>T
  hgvsp: ENSP00000317671.5:p.Ser301Cys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.670A>T
  hgvsp: ENSP00000473371.1:p.Ser224Cys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.901A>T
  hgvsp: ENSP00000383897.3:p.Ser301Cys
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser301Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-40076631-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076631
    reference: chr 12
allele count: 5
allele frequency: 4.153720903185073e-5
allele num: 120374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.905A>G
  hgvsp: ENSP00000383897.3:p.Gln302Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.905A>G
  hgvsp: ENSP00000317671.5:p.Gln302Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.674A>G
  hgvsp: ENSP00000381701.1:p.Gln225Arg
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.674A>G
  hgvsp: ENSP00000473371.1:p.Gln225Arg
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43173
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln302Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-40076648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076648
    reference: chr 12
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.922T>C
  hgvsp: ENST00000324616.5:c.922T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.691T>C
  hgvsp: ENST00000468200.2:c.691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.922T>C
  hgvsp: ENST00000405531.3:c.922T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.691T>C
  hgvsp: ENST00000398716.1:c.691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu308Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-40076660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076660
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076660
    reference: chr 12
allele count: 2
allele frequency: 1.6619025460347e-5
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.703G>A
  hgvsp: ENSP00000473371.1:p.Glu235Lys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.703G>A
  hgvsp: ENSP00000381701.1:p.Glu235Lys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.934G>A
  hgvsp: ENSP00000383897.3:p.Glu312Lys
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.934G>A
  hgvsp: ENSP00000317671.5:p.Glu312Lys
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu312Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-40076662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076662
    reference: chr 12
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.936G>A
  hgvsp: ENST00000324616.5:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.705G>A
  hgvsp: ENST00000468200.2:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.705G>A
  hgvsp: ENST00000398716.1:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.936G>A
  hgvsp: ENST00000405531.3:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu312Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-40076689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076689
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076689
    reference: chr 12
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.963G>A
  hgvsp: ENST00000405531.3:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.963G>A
  hgvsp: ENST00000324616.5:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.732G>A
  hgvsp: ENST00000468200.2:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.732G>A
  hgvsp: ENST00000398716.1:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys321Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-40076701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076701
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076701
    reference: chr 12
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.744T>C
  hgvsp: ENST00000398716.1:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.744T>C
  hgvsp: ENST00000468200.2:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.975T>C
  hgvsp: ENST00000405531.3:c.975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.975T>C
  hgvsp: ENST00000324616.5:c.975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp325Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

12-40076705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076705
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076705
    reference: chr 12
allele count: 1
allele frequency: 8.310617645103384e-6
allele num: 120328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.748A>G
  hgvsp: ENSP00000473371.1:p.Met250Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.979A>G
  hgvsp: ENSP00000383897.3:p.Met327Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.979A>G
  hgvsp: ENSP00000317671.5:p.Met327Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.748A>G
  hgvsp: ENSP00000381701.1:p.Met250Val
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met327Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-40076711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076711
    reference: chr 12
allele count: 35
allele frequency: 2.908329455560726e-4
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.754G>C
  hgvsp: ENSP00000473371.1:p.Asp252His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.754G>C
  hgvsp: ENSP00000381701.1:p.Asp252His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.985G>C
  hgvsp: ENSP00000383897.3:p.Asp329His
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.985G>C
  hgvsp: ENSP00000317671.5:p.Asp329His
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17638
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7389
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp329His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-40076722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076722
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076722
    reference: chr 12
allele count: 10
allele frequency: 8.311722853913159e-5
allele num: 120312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.765A>G
  hgvsp: ENST00000468200.2:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.996A>G
  hgvsp: ENST00000405531.3:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.765A>G
  hgvsp: ENST00000398716.1:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.996A>G
  hgvsp: ENST00000324616.5:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Val332Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-40076725-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076725
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076725
    reference: chr 12
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.999C>A
  hgvsp: ENST00000405531.3:c.999C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.768C>A
  hgvsp: ENST00000398716.1:c.768C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.768C>A
  hgvsp: ENST00000468200.2:c.768C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.999C>A
  hgvsp: ENST00000324616.5:c.999C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val333Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-40076736-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40076736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 40076736
    reference: chr 12
allele count: 12
allele frequency: 9.977550511349464e-5
allele num: 120270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000381701
  ensembl transcript: ENST00000398716
  gene symbol: C12orf40
  hgvsc: ENST00000398716.1:c.779A>T
  hgvsp: ENSP00000381701.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000317671
  ensembl transcript: ENST00000324616
  gene symbol: C12orf40
  hgvsc: ENST00000324616.5:c.1010A>T
  hgvsp: ENSP00000317671.5:p.Asp337Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000383897
  ensembl transcript: ENST00000405531
  gene symbol: C12orf40
  hgvsc: ENST00000405531.3:c.1010A>T
  hgvsp: ENSP00000383897.3:p.Asp337Val
  variant of: http://identifiers.org/hgnc/26846
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180116
  ensembl protein: ENSP00000473371
  ensembl transcript: ENST00000468200
  gene symbol: C12orf40
  hgvsc: ENST00000468200.2:c.779A>T
  hgvsp: ENSP00000473371.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/26846
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp337Val
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.187798603454613e-5
allele num: 10884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.744e0

FS
type: SiteQuality
SIO_000300: 2.844e0

VQSLOD
type: SiteQuality
SIO_000300: -1.546e-1

QD
type: SiteQuality
SIO_000300: 8.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.656627e6

GenotypeQuality
all individuals: 760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 2.363e0

DP
type: SiteQuality
SIO_000300: 1.6537e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.581e0

GenotypeQuality
all individuals: 1174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6177
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.208103130755064e-5
allele num: 10860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

DP
type: SiteQuality
SIO_000300: 1.646463e6

FS
type: SiteQuality
SIO_000300: 5.468e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.127e0

GenotypeQuality
all individuals: 349
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6176
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.151277918489523e-4
allele num: 8686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 9.622999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e0

DP
type: SiteQuality
SIO_000300: 1.64266e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4976
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.360513929525506e-5
allele num: 15722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.546327938616287e-4
allele num: 62036
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.690036900369004e-4
allele num: 10840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.643264e6

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.898599000685804e-5
allele num: 61242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 4.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.251e0

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.628964e6

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6181
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 751
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.851851851851852e-4
allele num: 10800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

African
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: 818
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

DP
type: SiteQuality
SIO_000300: 1.628964e6

FS
type: SiteQuality
SIO_000300: 4.195e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.416195856873823e-5
allele num: 10620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: -1.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

DP
type: SiteQuality
SIO_000300: 1.575216e6

FS
type: SiteQuality
SIO_000300: 3.206e0

QD
type: SiteQuality
SIO_000300: 1.716e1

VQSLOD
type: SiteQuality
SIO_000300: -2.314e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.63e-1

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.502796202367018e-5
allele num: 15378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58048
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.318e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 2.415e0

VQSLOD
type: SiteQuality
SIO_000300: -2.458e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 1.558842e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
all individuals: 3596
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 536
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.278772378516624e-3
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.515679e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 2.066e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 976
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18026
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.248439450686642e-4
allele num: 8010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.251e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.370025e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.822213125938055e-5
allele num: 14658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.656e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.886e0

DP
type: SiteQuality
SIO_000300: 1.301595e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

GenotypeQuality
all individuals: 2000
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.133651958692498e-5
allele num: 46868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 4.342e0

DP
type: SiteQuality
SIO_000300: 1.23418e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.11e0

MQ
type: SiteQuality
SIO_000300: 5.234e1

GenotypeQuality
all individuals: 7925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.145462347135808e-5
allele num: 46610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.227228e6

QD
type: SiteQuality
SIO_000300: 1.262e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 2.078e0

VQSLOD
type: SiteQuality
SIO_000300: -3.494e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.643e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 522
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.40805406927626e-4
allele num: 7102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9058
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 1.221805e6

QD
type: SiteQuality
SIO_000300: 1.314e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46354
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.315097317201473e-4
allele num: 7604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.945e0

VQSLOD
type: SiteQuality
SIO_000300: -2.476e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

DP
type: SiteQuality
SIO_000300: 1.215777e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13936
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.358601820840606e-5
allele num: 42398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.184045e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 5.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642683487745581e-5
allele num: 60876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.369743e6

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.238e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.951e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640419947506562e-5
allele num: 60960
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.54e1

FS
type: SiteQuality
SIO_000300: 2.917e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.377693e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.995e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.074575542660649e-4
allele num: 9306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.546e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.895e0

QD
type: SiteQuality
SIO_000300: 1.693e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

FS
type: SiteQuality
SIO_000300: 8.824e0

DP
type: SiteQuality
SIO_000300: 1.465255e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.093102381688834e-4
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 1.492e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

QD
type: SiteQuality
SIO_000300: 1.417e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.470006e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.947745168217609e-5
allele num: 11176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 1.906e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.456e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.415e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.484143e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64786
num of homozygotes: 0

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

South Asian
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allele count: 12
allele frequency: 1.02424035506999e-3
allele num: 11716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.527388e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65008
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031140441328109e-4
allele num: 9698
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.906e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.535060788407221e-5
allele num: 65144
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.540536e6

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65754
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East Asian
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African
type: Population
allele count: 0
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Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Other
type: Population
allele count: 0
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South Asian
type: Population
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
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allele num: 8606
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.520820026158104e-5
allele num: 65754
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South Asian
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allele num: 14350
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

FS
type: SiteQuality
SIO_000300: 5.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

DP
type: SiteQuality
SIO_000300: 1.562282e6

GenotypeQuality
all individuals: 2250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.642e-1

FS
type: SiteQuality
SIO_000300: 4.4e0

MQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 1.569354e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

GenotypeQuality
all individuals: 2055
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

South Asian
type: Population
allele count: 31
allele frequency: 2.03305351521511e-3
allele num: 15248
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.051803437424352e-5
allele num: 66096
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.59e1

DP
type: SiteQuality
SIO_000300: 1.575345e6

GenotypeQuality
all individuals: 7328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.582188e6

QD
type: SiteQuality
SIO_000300: 1.631e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.834e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.565e0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 2.27e1

VQSLOD
type: SiteQuality
SIO_000300: -2.534e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 3.801e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.583171e6

GenotypeQuality
all individuals: 2251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.27e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -2.241e0

FS
type: SiteQuality
SIO_000300: 5.089e0

DP
type: SiteQuality
SIO_000300: 1.583855e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.588642e6

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.617e-1

FS
type: SiteQuality
SIO_000300: 8.475e0

QD
type: SiteQuality
SIO_000300: 1.009e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.854140914709518e-4
allele num: 16180
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.589373e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 1.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
all individuals: 1210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 43624
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.803426510369702e-4
allele num: 66540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.155e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 1.590743e6

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2081
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
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: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.591093e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

VQSLOD
type: SiteQuality
SIO_000300: -2.585e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.9375e1

QD
type: SiteQuality
SIO_000300: 1.588e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2255
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.801810164771409e-4
allele num: 8618
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 1.163e0

DP
type: SiteQuality
SIO_000300: 1.591574e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 6
allele frequency: 5.227391531625719e-4
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.651998918691617e-4
allele num: 66586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.457e0

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 1.593976e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

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

GenotypeQuality
all individuals: 2251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 8.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e0

VQSLOD
type: SiteQuality
SIO_000300: -6.687e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

DP
type: SiteQuality
SIO_000300: 1.593077e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.424e1

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.084967320261438e-4
allele num: 9792
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 1.594642e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.422e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 4.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

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

GenotypeQuality
all individuals: 7447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.594642e6

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 4.106e0

QD
type: SiteQuality
SIO_000300: 1.422e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

GenotypeQuality
all individuals: 2251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.345e1

FS
type: SiteQuality
SIO_000300: 5.06e0

DP
type: SiteQuality
SIO_000300: 1.594793e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

FS
type: SiteQuality
SIO_000300: 1.706e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

DP
type: SiteQuality
SIO_000300: 1.594925e6

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 17
allele frequency: 1.032430462771772e-3
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

QD
type: SiteQuality
SIO_000300: 1.367e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.595861e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 1.767e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
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variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 43999
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.779e0

VQSLOD
type: SiteQuality
SIO_000300: -5.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.886e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.904e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.525e1

DP
type: SiteQuality
SIO_000300: 1.595165e6

GenotypeQuality
all individuals: 2089
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.451e0

FS
type: SiteQuality
SIO_000300: 1.926e0

DP
type: SiteQuality
SIO_000300: 1.595595e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.600252017641235e-4
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.597733e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

FS
type: SiteQuality
SIO_000300: 1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

VQSLOD
type: SiteQuality
SIO_000300: -1.924e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.595075e6

FS
type: SiteQuality
SIO_000300: 5.155e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
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: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.594245e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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African
type: Population
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allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.593467e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.599e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2250
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 6.525e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.592712e6

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.111e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.238e0

DP
type: SiteQuality
SIO_000300: 1.592078e6

VQSLOD
type: SiteQuality
SIO_000300: -1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

FS
type: SiteQuality
SIO_000300: 9.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.591882e6

QD
type: SiteQuality
SIO_000300: 1.501e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.571e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.037e0

MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

FS
type: SiteQuality
SIO_000300: 3.946e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43319
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.398e1

MQ
type: SiteQuality
SIO_000300: 6.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
SIO_000300: 4.561e0

DP
type: SiteQuality
SIO_000300: 1.591612e6

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 1.591422e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.981e0

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeQuality
all individuals: 2068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.423e1

DP
type: SiteQuality
SIO_000300: 1.591427e6

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 130
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GenotypeQuality
all individuals: 2249
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.52e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.326e1

FS
type: SiteQuality
SIO_000300: 1.596e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.449e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.591097e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

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

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.415e0

QD
type: SiteQuality
SIO_000300: 1.804e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.142e0

DP
type: SiteQuality
SIO_000300: 1.591134e6

FS
type: SiteQuality
SIO_000300: 5.652e0

MQ
type: SiteQuality
SIO_000300: 5.614e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 2070
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variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.12619971411068e-4
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503152206544582e-5
allele num: 66620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.591237e6

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.712e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

VQSLOD
type: SiteQuality
SIO_000300: -3.22e0

DP
type: SiteQuality
SIO_000300: 1.590195e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.502e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.084133142740453e-4
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.687e0

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.590378e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.742e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 282
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GenotypeQuality
all individuals: 43021
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.590378e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.687e0

FS
type: SiteQuality
SIO_000300: 1.805e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.637143519591931e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 1.590326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

QD
type: SiteQuality
SIO_000300: 1.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -7.937e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.59017e6

FS
type: SiteQuality
SIO_000300: 8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.13e-1

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007268795242243e-5
allele num: 66586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.49e-1

DP
type: SiteQuality
SIO_000300: 1.590786e6

FS
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.498e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 1.592182e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 5.069e0

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217433649866082e-4
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 5.555e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.361e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.112e0

DP
type: SiteQuality
SIO_000300: 1.593834e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.236e1

DP
type: SiteQuality
SIO_000300: 1.593921e6

VQSLOD
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.305e0

GenotypeQuality
all individuals: 7399
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 9.47e-1

DP
type: SiteQuality
SIO_000300: 1.596161e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
all individuals: 2061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43832
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.599e1

VQSLOD
type: SiteQuality
SIO_000300: -1.703e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.596087e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.747e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 3.426e0

GenotypeQuality
all individuals: 43801
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 1.192e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

QD
type: SiteQuality
SIO_000300: 1.656e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.79e-2

DP
type: SiteQuality
SIO_000300: 1.595948e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 32
allele frequency: 3.713158505453702e-3
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.304e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 1.596798e6

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.45719136551055e-4
allele num: 16492
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
SIO_000300: 4.949e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.595591e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.287e0

DP
type: SiteQuality
SIO_000300: 1.59519e6

VQSLOD
type: SiteQuality
SIO_000300: -2.163e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

FS
type: SiteQuality
SIO_000300: 8.329000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1