http://identifiers.org/exac.variant/12-102091671-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091671
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+865C>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.32C>A
  hgvsp: ENSP00000447887.1:p.Pro11Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.32C>A
  hgvsp: ENSP00000446994.1:p.Pro11Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.32C>A
  hgvsp: ENSP00000229266.3:p.Pro11Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.32C>A
  hgvsp: ENSP00000448766.1:p.Pro11Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.40C>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro11Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-102091672-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091672
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.33G>T
  hgvsp: ENST00000552351.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.33G>T
  hgvsp: ENST00000229266.3:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+866G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.41G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.33G>T
  hgvsp: ENST00000549872.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.33G>T
  hgvsp: ENST00000549128.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29958
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro11Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

12-102091684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091684
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091684
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.45G>A
  hgvsp: ENST00000229266.3:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.45G>A
  hgvsp: ENST00000549128.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.53G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.45G>A
  hgvsp: ENST00000552351.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.45G>A
  hgvsp: ENST00000549872.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+878G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34283
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33470
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg15Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-102091685-G-GCGCTGAGCGAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091697
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1268
alternate allele: GCGCTGAGCGAGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsp: ENSP00000448766.1:p.Glu19_Ser22dup
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsp: ENSP00000229266.3:p.Glu19_Ser22dup
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsp: ENSP00000447887.1:p.Glu19_Ser22dup
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsp: ENSP00000446994.1:p.Glu19_Ser22dup
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34014
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu19_Ser22dup
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-102091685-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091685
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.46G>T
  hgvsp: ENSP00000447887.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+879G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.46G>T
  hgvsp: ENSP00000229266.3:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.46G>T
  hgvsp: ENSP00000448766.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.54G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.46G>T
  hgvsp: ENSP00000446994.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala16Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-102091686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091686
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091686
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.47C>T
  hgvsp: ENSP00000448766.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.55C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+880C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.47C>T
  hgvsp: ENSP00000229266.3:p.Ala16Val
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.47C>T
  hgvsp: ENSP00000447887.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.47C>T
  hgvsp: ENSP00000446994.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15414
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala16Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-102091694-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091694
    reference: chr 12
allele count: 1
allele frequency: 2.275830678197542e-4
allele num: 4394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+888G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.55G>T
  hgvsp: ENSP00000448766.1:p.Glu19Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.55G>T
  hgvsp: ENSP00000446994.1:p.Glu19Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.55G>T
  hgvsp: ENSP00000229266.3:p.Glu19Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.63G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.55G>T
  hgvsp: ENSP00000447887.1:p.Glu19Ter
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25940
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu19Ter
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-102091702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091702
    reference: chr 12
allele count: 1
allele frequency: 8.350033400133601e-5
allele num: 11976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.71G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+896G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.63G>A
  hgvsp: ENST00000549872.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.63G>A
  hgvsp: ENST00000229266.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.63G>A
  hgvsp: ENST00000552351.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.63G>A
  hgvsp: ENST00000549128.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu21Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-102091702-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091702
    reference: chr 12
allele count: 1
allele frequency: 8.350033400133601e-5
allele num: 11976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.71G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.63G>C
  hgvsp: ENST00000552351.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.63G>C
  hgvsp: ENST00000229266.3:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.63G>C
  hgvsp: ENST00000549128.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.63G>C
  hgvsp: ENST00000549872.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+896G>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32045
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu21Leu
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: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-102091703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091703
    reference: chr 12
allele count: 1
allele frequency: 7.802746566791511e-5
allele num: 12816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.64A>G
  hgvsp: ENSP00000446994.1:p.Ser22Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.64A>G
  hgvsp: ENSP00000229266.3:p.Ser22Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.72A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.64A>G
  hgvsp: ENSP00000448766.1:p.Ser22Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.64A>G
  hgvsp: ENSP00000447887.1:p.Ser22Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+897A>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32499
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser22Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-102091704-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091704
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091704
    reference: chr 12
allele count: 1
allele frequency: 7.560864962951762e-5
allele num: 13226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.73G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.65G>C
  hgvsp: ENSP00000446994.1:p.Ser22Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.65G>C
  hgvsp: ENSP00000448766.1:p.Ser22Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.65G>C
  hgvsp: ENSP00000447887.1:p.Ser22Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.65G>C
  hgvsp: ENSP00000229266.3:p.Ser22Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+898G>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser22Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-102091711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091711
    reference: chr 12
allele count: 1
allele frequency: 4.787896198410418e-5
allele num: 20886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.80G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+905G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.72G>A
  hgvsp: ENST00000549128.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.72G>A
  hgvsp: ENST00000552351.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.72G>A
  hgvsp: ENST00000549872.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.72G>A
  hgvsp: ENST00000229266.3:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala24Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-102091726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091726
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091726
    reference: chr 12
allele count: 1
allele frequency: 2.302237775117414e-5
allele num: 43436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+920G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.87G>A
  hgvsp: ENST00000549872.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.87G>A
  hgvsp: ENST00000552351.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.87G>A
  hgvsp: ENST00000549128.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.87G>A
  hgvsp: ENST00000229266.3:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.95G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30067
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu29Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

12-102091730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091730
    reference: chr 12
allele count: 9
allele frequency: 1.882845188284519e-4
allele num: 47800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.91G>A
  hgvsp: ENSP00000447887.1:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.91G>A
  hgvsp: ENSP00000448766.1:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+924G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.99G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.91G>A
  hgvsp: ENSP00000229266.3:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.91G>A
  hgvsp: ENSP00000446994.1:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28524
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu31Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-102091732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091732
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091732
    reference: chr 12
allele count: 1
allele frequency: 2.032189887823118e-5
allele num: 49208
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.93G>A
  hgvsp: ENST00000229266.3:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.101G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.93G>A
  hgvsp: ENST00000549128.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+926G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.93G>A
  hgvsp: ENST00000552351.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.93G>A
  hgvsp: ENST00000549872.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu31Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

12-102091738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091738
    reference: chr 12
allele count: 1
allele frequency: 1.878569281635107e-5
allele num: 53232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.99C>T
  hgvsp: ENST00000229266.3:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.99C>T
  hgvsp: ENST00000549128.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.99C>T
  hgvsp: ENST00000552351.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+932C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.99C>T
  hgvsp: ENST00000549872.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.107C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg33Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-102091740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091740
    reference: chr 12
allele count: 1
allele frequency: 1.863377184809749e-5
allele num: 53666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+934A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.101A>G
  hgvsp: ENSP00000446994.1:p.Tyr34Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.101A>G
  hgvsp: ENSP00000229266.3:p.Tyr34Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.101A>G
  hgvsp: ENSP00000447887.1:p.Tyr34Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.109A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.101A>G
  hgvsp: ENSP00000448766.1:p.Tyr34Cys
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr34Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-102091748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091748
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091748
    reference: chr 12
allele count: 70
allele frequency: 3.290401428974335e-3
allele num: 21274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.109G>A
  hgvsp: ENSP00000446994.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.109G>A
  hgvsp: ENSP00000229266.3:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.6G>A
  hgvsp: ENSP00000448831.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+942G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.117G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.109G>A
  hgvsp: ENSP00000448766.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.109G>A
  hgvsp: ENSP00000447887.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14258
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7809
  bin: 2.25e1
  variant carriers: 3
hgvs: p.Ala37Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-102091758-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091758
    reference: chr 12
allele count: 9
allele frequency: 3.843525794328664e-4
allele num: 23416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.127C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.16C>G
  hgvsp: ENSP00000448831.1:p.Ser6Trp
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.119C>G
  hgvsp: ENSP00000448766.1:p.Ser40Trp
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.119C>G
  hgvsp: ENSP00000446994.1:p.Ser40Trp
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.119C>G
  hgvsp: ENSP00000447887.1:p.Ser40Trp
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.119C>G
  hgvsp: ENSP00000229266.3:p.Ser40Trp
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+952C>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23189
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20134
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24560
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser40Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-102091760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091760
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091760
    reference: chr 12
allele count: 6
allele frequency: 2.438231469440832e-4
allele num: 24608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.129C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+954C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.121C>T
  hgvsp: ENST00000552351.1:c.121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.121C>T
  hgvsp: ENST00000229266.3:c.121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.121C>T
  hgvsp: ENST00000549872.1:c.121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.18C>T
  hgvsp: ENST00000552215.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.121C>T
  hgvsp: ENST00000549128.1:c.121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22164
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21734
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu41Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

12-102091766-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091766
    reference: chr 12
allele count: 4
allele frequency: 1.466060694912769e-4
allele num: 27284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.24G>C
  hgvsp: ENSP00000448831.1:p.Glu9Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.127G>C
  hgvsp: ENSP00000448766.1:p.Glu43Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.127G>C
  hgvsp: ENSP00000229266.3:p.Glu43Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.135G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.127G>C
  hgvsp: ENSP00000447887.1:p.Glu43Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.127G>C
  hgvsp: ENSP00000446994.1:p.Glu43Gln
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+960G>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15962
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu43Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-102091773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091773
    reference: chr 12
allele count: 1
allele frequency: 2.374394529395004e-5
allele num: 42116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.134C>T
  hgvsp: ENSP00000448766.1:p.Pro45Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.142C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.134C>T
  hgvsp: ENSP00000446994.1:p.Pro45Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.134C>T
  hgvsp: ENSP00000229266.3:p.Pro45Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.134C>T
  hgvsp: ENSP00000447887.1:p.Pro45Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.31C>T
  hgvsp: ENSP00000448831.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+967C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro45Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

12-102091785-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091785
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091785
    reference: chr 12
allele count: 1
allele frequency: 1.572228161750833e-5
allele num: 63604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.146A>G
  hgvsp: ENSP00000448766.1:p.Tyr49Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.154A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.146A>G
  hgvsp: ENSP00000446994.1:p.Tyr49Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+979A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.43A>G
  hgvsp: ENSP00000448831.1:p.Tyr15Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.146A>G
  hgvsp: ENSP00000447887.1:p.Tyr49Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.146A>G
  hgvsp: ENSP00000229266.3:p.Tyr49Cys
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24016
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23695
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr49Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-102091787-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091787
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 66134
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.148T>G
  hgvsp: ENSP00000229266.3:p.Trp50Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.148T>G
  hgvsp: ENSP00000446994.1:p.Trp50Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.156T>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.45T>G
  hgvsp: ENSP00000448831.1:p.Trp16Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+981T>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.148T>G
  hgvsp: ENSP00000447887.1:p.Trp50Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.148T>G
  hgvsp: ENSP00000448766.1:p.Trp50Gly
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23137
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp50Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

12-102091792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091792
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091792
    reference: chr 12
allele count: 2
allele frequency: 2.797437547206758e-5
allele num: 71494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.153C>T
  hgvsp: ENST00000552351.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.153C>T
  hgvsp: ENST00000549872.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.161C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.153C>T
  hgvsp: ENST00000229266.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+986C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.153C>T
  hgvsp: ENST00000549128.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.50C>T
  hgvsp: ENST00000552215.1:c.50C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr51Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-102091796-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091796
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091796
    reference: chr 12
allele count: 1
allele frequency: 1.335149136158509e-5
allele num: 74898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.157C>A
  hgvsp: ENSP00000448766.1:p.Leu53Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.157C>A
  hgvsp: ENSP00000229266.3:p.Leu53Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+990C>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.165C>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.157C>A
  hgvsp: ENSP00000446994.1:p.Leu53Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.54C>A
  hgvsp: ENSP00000448831.1:p.Leu19Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.157C>A
  hgvsp: ENSP00000447887.1:p.Leu53Met
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu53Met
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-102091817-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091817
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091817
    reference: chr 12
allele count: 1
allele frequency: 1.149055476398401e-5
allele num: 87028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.75T>G
  hgvsp: ENSP00000448831.1:p.Trp26Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.178T>G
  hgvsp: ENSP00000447887.1:p.Trp60Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.178T>G
  hgvsp: ENSP00000446994.1:p.Trp60Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1011T>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.178T>G
  hgvsp: ENSP00000448766.1:p.Trp60Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.178T>G
  hgvsp: ENSP00000229266.3:p.Trp60Gly
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.186T>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp60Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-102091823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091823
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091823
    reference: chr 12
allele count: 2
allele frequency: 2.302343785974122e-5
allele num: 86868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.184G>A
  hgvsp: ENSP00000446994.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.184G>A
  hgvsp: ENSP00000447887.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.184G>A
  hgvsp: ENSP00000448766.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.184G>A
  hgvsp: ENSP00000229266.3:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.81G>A
  hgvsp: ENSP00000448831.1:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1017G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.192G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala62Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

12-102091825-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091825
    reference: chr 12
allele count: 1
allele frequency: 1.150800957466397e-5
allele num: 86896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.83C>G
  hgvsp: ENST00000552215.1:c.83C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1019C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.186C>G
  hgvsp: ENST00000549872.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.194C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.186C>G
  hgvsp: ENST00000549128.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.186C>G
  hgvsp: ENST00000552351.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.186C>G
  hgvsp: ENST00000229266.3:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala62Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-102091827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091827
    reference: chr 12
allele count: 2
allele frequency: 2.320077954619275e-5
allele num: 86204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.196C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.85C>T
  hgvsp: ENSP00000448831.1:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.188C>T
  hgvsp: ENSP00000229266.3:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.188C>T
  hgvsp: ENSP00000446994.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.188C>T
  hgvsp: ENSP00000448766.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1021C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.188C>T
  hgvsp: ENSP00000447887.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17523
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro63Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-102091831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091831
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091831
    reference: chr 12
allele count: 70
allele frequency: 8.279320622604911e-4
allele num: 84548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.192C>T
  hgvsp: ENST00000549872.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.89C>T
  hgvsp: ENST00000552215.1:c.89C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.192C>T
  hgvsp: ENST00000549128.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.192C>T
  hgvsp: ENST00000229266.3:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.192C>T
  hgvsp: ENST00000552351.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.200C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1025C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28386
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16068
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 65
hgvs: p.Asn64Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-102091831-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091831
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091831
    reference: chr 12
allele count: 7
allele frequency: 8.279320622604911e-5
allele num: 84548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1025C>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.89C>A
  hgvsp: ENSP00000448831.1:p.Asn30Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.192C>A
  hgvsp: ENSP00000448766.1:p.Asn64Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.200C>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.192C>A
  hgvsp: ENSP00000229266.3:p.Asn64Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.192C>A
  hgvsp: ENSP00000447887.1:p.Asn64Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.192C>A
  hgvsp: ENSP00000446994.1:p.Asn64Lys
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28386
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn64Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

12-102091835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091835
    reference: chr 12
allele count: 4
allele frequency: 4.765081482893357e-5
allele num: 83944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1029A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.204A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.196A>G
  hgvsp: ENSP00000448766.1:p.Ile66Val
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.196A>G
  hgvsp: ENSP00000229266.3:p.Ile66Val
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.196A>G
  hgvsp: ENSP00000447887.1:p.Ile66Val
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.93A>G
  hgvsp: ENSP00000448831.1:p.Ile32Val
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.196A>G
  hgvsp: ENSP00000446994.1:p.Ile66Val
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile66Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

12-102091836-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091836
    reference: chr 12
allele count: 3
allele frequency: 3.595915040513976e-5
allele num: 83428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.197T>A
  hgvsp: ENSP00000448766.1:p.Ile66Asn
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.197T>A
  hgvsp: ENSP00000447887.1:p.Ile66Asn
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1030T>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.94T>A
  hgvsp: ENSP00000448831.1:p.Ile32Asn
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.197T>A
  hgvsp: ENSP00000446994.1:p.Ile66Asn
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.197T>A
  hgvsp: ENSP00000229266.3:p.Ile66Asn
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.205T>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile66Asn
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-102091844-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091844
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091844
    reference: chr 12
allele count: 2
allele frequency: 2.526975463068254e-5
allele num: 79146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.205C>A
  hgvsp: ENSP00000448766.1:p.Leu69Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.213C>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.205C>A
  hgvsp: ENSP00000447887.1:p.Leu69Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.205C>A
  hgvsp: ENSP00000229266.3:p.Leu69Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.205C>A
  hgvsp: ENSP00000446994.1:p.Leu69Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.102C>A
  hgvsp: ENSP00000448831.1:p.Leu35Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1038C>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu69Met
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-102091847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091847
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091847
    reference: chr 12
allele count: 21
allele frequency: 2.686796315250768e-4
allele num: 78160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1041G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.208G>A
  hgvsp: ENSP00000446994.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.216G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.208G>A
  hgvsp: ENSP00000229266.3:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.105G>A
  hgvsp: ENSP00000448831.1:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.208G>A
  hgvsp: ENSP00000448766.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.208G>A
  hgvsp: ENSP00000447887.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18759
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21532
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly70Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-102091848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091848
    reference: chr 12
allele count: 1
allele frequency: 1.283828891285369e-5
allele num: 77892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.217G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1042G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.209G>A
  hgvsp: ENSP00000229266.3:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.209G>A
  hgvsp: ENSP00000448766.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.106G>A
  hgvsp: ENSP00000448831.1:p.Gly36Glu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.209G>A
  hgvsp: ENSP00000446994.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.209G>A
  hgvsp: ENSP00000447887.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly70Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

12-102091852-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091852
    reference: chr 12
allele count: 1
allele frequency: 1.320864373646114e-5
allele num: 75708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.213C>G
  hgvsp: ENST00000549128.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.110C>G
  hgvsp: ENST00000552215.1:c.110C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.213C>G
  hgvsp: ENST00000549872.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1046C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.213C>G
  hgvsp: ENST00000229266.3:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.213C>G
  hgvsp: ENST00000552351.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.221C>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu71Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-102091856-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091856
    reference: chr 12
allele count: 1
allele frequency: 1.367278295824332e-5
allele num: 73138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.114G>T
  hgvsp: ENSP00000448831.1:p.Val39Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.217G>T
  hgvsp: ENSP00000446994.1:p.Val73Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1050G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.217G>T
  hgvsp: ENSP00000229266.3:p.Val73Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.225G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.217G>T
  hgvsp: ENSP00000448766.1:p.Val73Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.217G>T
  hgvsp: ENSP00000447887.1:p.Val73Phe
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val73Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-102091860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091860
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091860
    reference: chr 12
allele count: 1
allele frequency: 1.371704479986832e-5
allele num: 72902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.221A>G
  hgvsp: ENSP00000448766.1:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.221A>G
  hgvsp: ENSP00000447887.1:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.229A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.221A>G
  hgvsp: ENSP00000446994.1:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.221A>G
  hgvsp: ENSP00000229266.3:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1054A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.118A>G
  hgvsp: ENSP00000448831.1:p.Asn40Ser
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18412
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn74Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-102091872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091872
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091872
    reference: chr 12
allele count: 1
allele frequency: 1.538603563405853e-5
allele num: 64994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1066C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.130C>T
  hgvsp: ENSP00000448831.1:p.Thr44Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.233C>T
  hgvsp: ENSP00000446994.1:p.Thr78Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.233C>T
  hgvsp: ENSP00000448766.1:p.Thr78Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.233C>T
  hgvsp: ENSP00000229266.3:p.Thr78Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.241C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.233C>T
  hgvsp: ENSP00000447887.1:p.Thr78Met
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14425
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr78Met
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

12-102091873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091873
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091873
    reference: chr 12
allele count: 2
allele frequency: 3.088803088803089e-5
allele num: 64750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.234G>A
  hgvsp: ENST00000549128.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.234G>A
  hgvsp: ENST00000549872.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.234G>A
  hgvsp: ENST00000229266.3:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.131G>A
  hgvsp: ENST00000552215.1:c.131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.234G>A
  hgvsp: ENST00000552351.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.242G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1067G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr78Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-102091876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091876
    reference: chr 12
allele count: 2
allele frequency: 3.146633102580239e-5
allele num: 63560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.134C>T
  hgvsp: ENST00000552215.1:c.134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.237C>T
  hgvsp: ENST00000549128.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1070C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.237C>T
  hgvsp: ENST00000229266.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.237C>T
  hgvsp: ENST00000549872.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.237C>T
  hgvsp: ENST00000552351.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.245C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu79Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-102091880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091880
    reference: chr 12
allele count: 2
allele frequency: 3.244962196190415e-5
allele num: 61634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.241C>T
  hgvsp: ENSP00000447887.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.241C>T
  hgvsp: ENSP00000448766.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.241C>T
  hgvsp: ENSP00000446994.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1074C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.138C>T
  hgvsp: ENSP00000448831.1:p.Leu47Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.241C>T
  hgvsp: ENSP00000229266.3:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.249C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu81Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

12-102091884-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091884
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091881
    reference: chr 12
allele count: 2
allele frequency: 3.395124601072859e-5
allele num: 58908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1081_82+1083delCCT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.256_258delCCT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.248_250delCCT
  hgvsp: ENSP00000229266.3:p.Ser83del
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.248_250delCCT
  hgvsp: ENSP00000448766.1:p.Ser83del
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.248_250delCCT
  hgvsp: ENSP00000446994.1:p.Ser83del
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.248_250delCCT
  hgvsp: ENSP00000447887.1:p.Ser83del
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.145_147delCCT
  hgvsp: ENSP00000448831.1:p.Ser49del
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16264
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser83del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: TCTC
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-102091891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091891
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091891
    reference: chr 12
allele count: 1
allele frequency: 1.818380186929483e-5
allele num: 54994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.252C>T
  hgvsp: ENST00000549872.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.260C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.149C>T
  hgvsp: ENST00000552215.1:c.149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.252C>T
  hgvsp: ENST00000229266.3:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.252C>T
  hgvsp: ENST00000549128.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.252C>T
  hgvsp: ENST00000552351.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1085C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr84Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-102091896-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091896
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091896
    reference: chr 12
allele count: 3
allele frequency: 5.893446487505893e-5
allele num: 50904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.154C>G
  hgvsp: ENSP00000448831.1:p.Pro52Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.265C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.257C>G
  hgvsp: ENSP00000229266.3:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.257C>G
  hgvsp: ENSP00000447887.1:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.257C>G
  hgvsp: ENSP00000448766.1:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.257C>G
  hgvsp: ENSP00000446994.1:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1090C>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26176
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16967
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5693
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Pro86Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-102091899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091899
    reference: chr 12
allele count: 1
allele frequency: 2.030869212022746e-5
allele num: 49240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.260C>T
  hgvsp: ENSP00000448766.1:p.Thr87Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.157C>T
  hgvsp: ENSP00000448831.1:p.Thr53Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.260C>T
  hgvsp: ENSP00000446994.1:p.Thr87Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.260C>T
  hgvsp: ENSP00000229266.3:p.Thr87Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1093C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.260C>T
  hgvsp: ENSP00000447887.1:p.Thr87Met
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.268C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16841
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr87Met
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-102091906-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091906
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091906
    reference: chr 12
allele count: 1
allele frequency: 2.239741981723705e-5
allele num: 44648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.267C>G
  hgvsp: ENST00000549128.1:c.267C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.267C>G
  hgvsp: ENST00000229266.3:c.267C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.267C>G
  hgvsp: ENST00000549872.1:c.267C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.164C>G
  hgvsp: ENST00000552215.1:c.164C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1100C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.267C>G
  hgvsp: ENST00000552351.1:c.267C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.275C>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16544
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11419
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr89Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS

12-102091907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091907
    reference: chr 12
allele count: 5
allele frequency: 1.163602513381429e-4
allele num: 42970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.165G>A
  hgvsp: ENSP00000448831.1:p.Glu56Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.276G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1101G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.268G>A
  hgvsp: ENSP00000229266.3:p.Glu90Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.268G>A
  hgvsp: ENSP00000446994.1:p.Glu90Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.268G>A
  hgvsp: ENSP00000448766.1:p.Glu90Lys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.268G>A
  hgvsp: ENSP00000447887.1:p.Glu90Lys
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16343
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu90Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-102091916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091916
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091916
    reference: chr 12
allele count: 3
allele frequency: 8.362136247073252e-5
allele num: 35876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+4G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+4G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+4G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+4G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+4G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+4G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1110G>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14779
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
hgvs: c.273+4G>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

12-102091932-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091932
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091932
    reference: chr 12
allele count: 1
allele frequency: 5.84180394905947e-5
allele num: 17118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1126C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+20C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+20C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+20C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+20C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+20C>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+20C>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-102091935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091935
    reference: chr 12
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+23G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+23G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+23G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1129G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+23G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+23G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+23G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-102091938-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091938
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091938
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 14830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+26G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+26G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+26G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1132G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+26G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+26G>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+26G>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

12-102091940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091940
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091940
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 13504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+28G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+28G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1134G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+28G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+28G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+28G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+28G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20420
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

12-102091941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091941
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091941
    reference: chr 12
allele count: 1
allele frequency: 7.472724555372888e-5
allele num: 13382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+29C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+29C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+29C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+29C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+29C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+29C>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1135C>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30280
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genotype quality: GenotypeQuality
  all individuals: 285
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
  variant carriers: 0
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: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-102091945-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091945
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091945
    reference: chr 12
allele count: 3
allele frequency: 2.54539283896148e-4
allele num: 11786
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+33A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+33A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+33A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1139A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+33A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+33A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+33A>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-102091945-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091945
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091945
    reference: chr 12
allele count: 1
allele frequency: 8.484642796538266e-5
allele num: 11786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+33A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+33A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+33A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+33A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+33A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1139A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+33A>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-102091946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091946
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091946
    reference: chr 12
allele count: 1
allele frequency: 9.064539521392314e-5
allele num: 11032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+34G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+34G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+34G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+34G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+34G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+34G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1140G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
  all individuals: 2451
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-102091958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102091958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102091958
    reference: chr 12
allele count: 8
allele frequency: 1.27591706539075e-3
allele num: 6270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.273+46G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.170+46G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.273+46G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.82+1152G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.281+46G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.273+46G>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.273+46G>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20050
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
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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: 10
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 1.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-102107817-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107817
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107817
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 116500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-51A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-51A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-51A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-51A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-51A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-51A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-51A>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-102107821-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107821
    reference: chr 12
allele count: 1
allele frequency: 8.580892069539549e-6
allele num: 116538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-47A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-47A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-47A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-47A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-47A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-47A>C
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-47A>C
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22656
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-102107825-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107825
    reference: chr 12
allele count: 1
allele frequency: 8.573829243616784e-6
allele num: 116634
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-43T>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-43T>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-43T>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-43T>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-43T>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-43T>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-43T>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-102107826-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107826
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107826
    reference: chr 12
allele count: 1
allele frequency: 8.578094976667581e-6
allele num: 116576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-42A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-42A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-42A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-42A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-42A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-42A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-42A>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-102107836-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107836
    reference: chr 12
allele count: 1
allele frequency: 8.553149269561053e-6
allele num: 116916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-32A>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-32A>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-32A>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-32A>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-32A>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-32A>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-32A>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-102107840-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107840
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107840
    reference: chr 12
allele count: 3
allele frequency: 2.559115569659126e-5
allele num: 117228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-28A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-28A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-28A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-28A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-28A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-28A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-28A>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-102107842-CTTTAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107842
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107837
    reference: chr 12
allele count: 1
allele frequency: 8.52747552614524e-6
allele num: 117268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-18_274-14delTATTT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-18_274-14delTATTT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-18_274-14delTATTT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-18_274-14delTATTT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-18_282-14delTATTT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-18_83-14delTATTT
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-18_171-14delTATTT
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: CTTTAT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-102107846-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107846
    reference: chr 12
allele count: 1
allele frequency: 8.506005239699228e-6
allele num: 117564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.171-22A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.274-22A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.274-22A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.83-22A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.274-22A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.282-22A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.274-22A>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-102107875-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107875
    reference: chr 12
allele count: 3
allele frequency: 2.48554242820925e-5
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.289A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.178A>G
  hgvsp: ENSP00000448831.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.90A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.281A>G
  hgvsp: ENSP00000446994.1:p.Tyr94Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.281A>G
  hgvsp: ENSP00000229266.3:p.Tyr94Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.281A>G
  hgvsp: ENSP00000448766.1:p.Tyr94Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.281A>G
  hgvsp: ENSP00000447887.1:p.Tyr94Cys
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr94Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

12-102107879-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107879
    reference: chr 12
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.285G>T
  hgvsp: ENSP00000446994.1:p.Trp95Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.285G>T
  hgvsp: ENSP00000229266.3:p.Trp95Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.182G>T
  hgvsp: ENSP00000448831.1:p.Trp61Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.285G>T
  hgvsp: ENSP00000448766.1:p.Trp95Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.94G>T
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.285G>T
  hgvsp: ENSP00000447887.1:p.Trp95Cys
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.293G>T
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp95Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-102107885-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107885
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107885
    reference: chr 12
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.299C>A
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.291C>A
  hgvsp: ENSP00000448766.1:p.Tyr97Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.188C>A
  hgvsp: ENSP00000448831.1:p.Tyr63Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.291C>A
  hgvsp: ENSP00000229266.3:p.Tyr97Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.291C>A
  hgvsp: ENSP00000447887.1:p.Tyr97Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.291C>A
  hgvsp: ENSP00000446994.1:p.Tyr97Ter
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.100C>A
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr97Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

12-102107891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102107891
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 102107891
    reference: chr 12
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000447887
  ensembl transcript: ENST00000552351
  gene symbol: CHPT1
  hgvsc: ENST00000552351.1:c.297A>G
  hgvsp: ENST00000552351.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448831
  ensembl transcript: ENST00000552215
  gene symbol: CHPT1
  hgvsc: ENST00000552215.1:c.194A>G
  hgvsp: ENST00000552215.1:c.194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000546490
  gene symbol: CHPT1
  hgvsc: ENST00000546490.1:n.305A>G
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000229266
  ensembl transcript: ENST00000229266
  gene symbol: CHPT1
  hgvsc: ENST00000229266.3:c.297A>G
  hgvsp: ENST00000229266.3:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000446994
  ensembl transcript: ENST00000549128
  gene symbol: CHPT1
  hgvsc: ENST00000549128.1:c.297A>G
  hgvsp: ENST00000549128.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111666
  ensembl protein: ENSP00000448766
  ensembl transcript: ENST00000549872
  gene symbol: CHPT1
  hgvsc: ENST00000549872.1:c.297A>G
  hgvsp: ENST00000549872.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17852
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111666
  ensembl transcript: ENST00000550385
  gene symbol: CHPT1
  hgvsc: ENST00000550385.1:n.106A>G
  variant of: http://identifiers.org/hgnc/17852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu99Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
reference allele: A

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 381
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.470000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 8.1523e4

QD
type: SiteQuality
SIO_000300: 6.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.379999999999999e-2

DP
type: SiteQuality
SIO_000300: 8.9177e4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.836e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.79521e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 4.196e1

FS
type: SiteQuality
SIO_000300: 4.523e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 1.83845e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

FS
type: SiteQuality
SIO_000300: 4.523e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

MQ
type: SiteQuality
SIO_000300: 4.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 1.83845e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.617e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.91789e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.714e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
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allele count: 1
allele frequency: 4.504504504504504e-3
allele num: 222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 2.78349e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 516
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Other
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allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.820167455405897e-4
allele num: 5494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.12e-2

BaseQRankSum
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DP
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SIO_000300: 3.72463e5

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

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

Latino
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East Asian
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allele frequency: 0.0e0
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African
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allele num: 654
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
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FS
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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SIO_000300: 3.22e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele frequency: 2.544529262086514e-4
allele num: 3930
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele num: 6124
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Other
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ReadPosRankSum
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.18e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.688048615800135e-4
allele num: 5924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.63043e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1198
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.292582417582418e-5
allele num: 23296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -2.285e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

DP
type: SiteQuality
SIO_000300: 6.62927e5

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 3.489183531053733e-4
allele num: 25794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

DP
type: SiteQuality
SIO_000300: 6.95334e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 2.255e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.761378168961107e-5
allele num: 26586
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.302e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.295e0

DP
type: SiteQuality
SIO_000300: 7.06034e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.78e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 292
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.270663033605813e-4
allele num: 4404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.625e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.347e0

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

DP
type: SiteQuality
SIO_000300: 7.39564e5

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 64
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.468275245755138e-4
allele num: 2238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 7.4529e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5451
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GenotypeQuality
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GenotypeQuality
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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: 69

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.329004329004329e-3
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.795447458684128e-5
allele num: 12828
num of homozygotes: 0

African
type: Population
allele count: 67
allele frequency: 1.245353159851301e-1
allele num: 538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

FS
type: SiteQuality
SIO_000300: 1.102e0

QD
type: SiteQuality
SIO_000300: 1.477e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.58184e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.954e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 6.60114419832771e-4
allele num: 13634
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.3182e1

QD
type: SiteQuality
SIO_000300: 1.839e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.97e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 4.01273e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 8

Latino
type: Population
allele count: 6
allele frequency: 9.404388714733543e-3
allele num: 638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.093e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.23536e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 97
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.53968253968254e-4
allele num: 15750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1352e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23598
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.852080123266564e-4
allele num: 2596
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
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DP
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QD
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 8.138999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 400
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.801748290933542e-5
allele num: 35692
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.48442e5

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.01e-2

QD
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4600
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37058
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 4.82e0

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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SIO_000300: 8.67592e5

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 39970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5350
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

African
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allele count: 2
allele frequency: 4.020908725371934e-4
allele num: 4974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10722
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

FS
type: SiteQuality
SIO_000300: 1.191e0

MQ
type: SiteQuality
SIO_000300: 5.755e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 9.10645e5

VQSLOD
type: SiteQuality
SIO_000300: -2.004e0

QD
type: SiteQuality
SIO_000300: 5.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.388116731145818e-5
allele num: 41874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.822e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.40346e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.017e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.168599901976801e-5
allele num: 12242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 1.984e0

DP
type: SiteQuality
SIO_000300: 1.041566e6

VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 2.980625931445604e-4
allele num: 6710
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African
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allele frequency: 0.0e0
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Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6698
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.076067098488623e-5
allele num: 48168
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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Latino
type: Population
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Other
type: Population
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.092663123090445e-5
allele num: 47786
num of homozygotes: 0

European (Finnish)
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African
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East Asian
type: Population
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allele num: 6622
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Other
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
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VQSLOD
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QD
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MQ
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30294
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 3.575685339690107e-4
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 66
allele frequency: 1.050955414012739e-2
allele num: 6280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

FS
type: SiteQuality
SIO_000300: 2.475e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

DP
type: SiteQuality
SIO_000300: 1.0066e6

GenotypeQuality
all individuals: 102
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.493556371084749e-4
allele num: 46868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

FS
type: SiteQuality
SIO_000300: 2.475e0

QD
type: SiteQuality
SIO_000300: 1.192e1

DP
type: SiteQuality
SIO_000300: 1.0066e6

GenotypeQuality
all individuals: 1981
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.150445142144424e-5
allele num: 46502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.607200257152041e-4
allele num: 6222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.663893510815308e-4
allele num: 12020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.73e0

MQ
type: SiteQuality
SIO_000300: 5.827e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

FS
type: SiteQuality
SIO_000300: 7.511e0

DP
type: SiteQuality
SIO_000300: 9.96576e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 406
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.494068750541173e-5
allele num: 46196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

FS
type: SiteQuality
SIO_000300: 6.028e0

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 9.88142e5

GenotypeQuality
all individuals: 836
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1091
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2246
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.684636118598383e-4
allele num: 5936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.280397701359117e-5
allele num: 43852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -3.825e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 9.34067e5

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 601
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 1814
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 1296
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variant carriers: 0

GenotypeQuality
all individuals: 22790
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 4.845408398707891e-4
allele num: 43340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

DP
type: SiteQuality
SIO_000300: 9.21229e5

MQ
type: SiteQuality
SIO_000300: 5.873e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 1223
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 572
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variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43148
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11604
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.70299727520436e-4
allele num: 5872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.174e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 9.16938e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.292e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -2.066e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1026
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GenotypeQuality
all individuals: 1328
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.391429118040941e-5
allele num: 41816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 8.91151e5

QD
type: SiteQuality
SIO_000300: 1.011e1

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 6.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 88
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.474267616785431e-5
allele num: 40416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

Latino
type: Population
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: 5508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.62741e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.447e0

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 140
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GenotypeQuality
all individuals: 1903
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20065
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GenotypeQuality
all individuals: 955
bin: 6.75e1
variant carriers: 0

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

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

Latino
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allele count: 1
allele frequency: 1.487652484379649e-4
allele num: 6722
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.987e0

VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

DP
type: SiteQuality
SIO_000300: 8.55006e5

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
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: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.804891731179177e-5
allele num: 35652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

ReadPosRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10450
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 5.636025474835146e-5
allele num: 35486
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.753e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.57789e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 5670
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 5.756058251309504e-5
allele num: 34746
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.44377e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.593e0

FS
type: SiteQuality
SIO_000300: 7.787e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.936127270568681e-5
allele num: 33692
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.935e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.21488e5

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.113906707355048e-5
allele num: 32114
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

African
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: 404
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 3.95882818685669e-4
allele num: 2526
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.87057e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2308
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East Asian
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allele frequency: 0.0e0
allele num: 4042
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 382
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European (Non-Finnish)
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allele frequency: 3.359086328518643e-5
allele num: 29770
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.0916236081799e-4
allele num: 27482
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 5.57209e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 4.15e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 2.756339581036384e-4
allele num: 3628
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.744135344902764e-4
allele num: 22934
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.43065e5

ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

South Asian
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allele frequency: 4.267425320056899e-4
allele num: 7030
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3016
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.951e0

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.77812e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.203948952564411e-4
allele num: 8306
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-2

QD
type: SiteQuality
SIO_000300: 8.98e0

DP
type: SiteQuality
SIO_000300: 3.52224e5

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

African
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allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.267105930055753e-4
allele num: 7892
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 986
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.225e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
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SIO_000300: 8.47e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

DP
type: SiteQuality
SIO_000300: 3.42935e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

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

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

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

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

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

Other
type: Population
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Latino
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allele frequency: 0.0e0
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African
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BaseQRankSum
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SIO_000300: -1.537e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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allele num: 780
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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allele frequency: 1.666666666666667e-3
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East Asian
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Other
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 3496
num of homozygotes: 0

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

GenotypeQuality
all individuals: 13467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 8.517887563884157e-4
allele num: 1174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.90442e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.419999999999999e-2

QD
type: SiteQuality
SIO_000300: 4.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.507e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 4.770992366412214e-4
allele num: 2096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.215962441314555e-3
allele num: 852
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

FS
type: SiteQuality
SIO_000300: 6.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.58141e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13126
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: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

DP
type: SiteQuality
SIO_000300: 2.47453e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.129e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10452
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 2324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 4.389e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e0

QD
type: SiteQuality
SIO_000300: 1.443e1

VQSLOD
type: SiteQuality
SIO_000300: -2.215e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

DP
type: SiteQuality
SIO_000300: 2.475042e6

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
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GenotypeQuality
all individuals: 22656
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.9024e1

VQSLOD
type: SiteQuality
SIO_000300: -3.719e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
SIO_000300: 1.352e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 2.476119e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
all individuals: 4125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 10643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.581501137225171e-5
allele num: 13190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.476591e6

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.466e0

VQSLOD
type: SiteQuality
SIO_000300: -3.098e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

FS
type: SiteQuality
SIO_000300: 2.0685e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 2322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
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GenotypeQuality
all individuals: 4123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 1
allele frequency: 1.523275651961979e-5
allele num: 65648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.349e-1

FS
type: SiteQuality
SIO_000300: 9.539999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

DP
type: SiteQuality
SIO_000300: 2.482999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.148e1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043213633597079e-5
allele num: 65720
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.523e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 2.488179e6

FS
type: SiteQuality
SIO_000300: 1.262e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
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variant carriers: 0

GenotypeQuality
all individuals: 4124
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13702
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: 1
allele frequency: 1.521467912241731e-5
allele num: 65726
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.098e1

FS
type: SiteQuality
SIO_000300: 1.0576e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 2.490316e6

MQRankSum
type: SiteQuality
SIO_000300: -6.334e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
all individuals: 1840
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 646
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519849230956289e-5
allele num: 65796
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.478e0

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 2.495261e6

QD
type: SiteQuality
SIO_000300: 1.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22651
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507346975570179e-5
allele num: 66558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 2.536622e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

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

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3658
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22651
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15445
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 272
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.955e0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

FS
type: SiteQuality
SIO_000300: 1.137e0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.538634e6

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

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22650
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.427e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

DP
type: SiteQuality
SIO_000300: 2.540462e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.568e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeQuality
all individuals: 5852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22650
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2366
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0