1-45793894-GCAGTCCGTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793885
    reference: chr 1
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsp: ENSP00000335060.3:p.Ser360_Gln362del
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20738
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser360_Gln362del
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16498
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: GCAGTCCGTA
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-45793895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793895
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793895
    reference: chr 1
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1075C>G
  hgvsp: ENSP00000335060.3:p.Gln359Glu
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 114
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genotype quality: GenotypeQuality
  all individuals: 1000
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genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln359Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.06134076857801e-5
  allele num: 16498
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8636
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-45793897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793897
    reference: chr 1
allele count: 2
allele frequency: 1.660522732556209e-5
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1077G>A
  hgvsp: ENST00000334815.3:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln359Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.021421881137263e-5
  allele num: 66194
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16498
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-45793900-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793900
    reference: chr 1
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1080C>A
  hgvsp: ENST00000334815.3:c.1080C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 197
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 131
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1644
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 48258
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser360Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11560
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

1-45793900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793900
    reference: chr 1
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1080C>T
  hgvsp: ENST00000334815.3:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6739
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser360Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11560
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66146
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

1-45793901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793901
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793901
    reference: chr 1
allele count: 5
allele frequency: 4.155101633785962e-5
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1081G>A
  hgvsp: ENSP00000335060.3:p.Val361Ile
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 33854
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 198
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1086
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hgvs: p.Val361Ile
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 1.998401278976818e-4
  allele num: 10008
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-45793907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793907
    reference: chr 1
allele count: 2
allele frequency: 1.666055779547499e-5
allele num: 120044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1087G>A
  hgvsp: ENSP00000335060.3:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu363Lys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8634
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-45793926-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793926
    reference: chr 1
allele count: 1
allele frequency: 8.459807454782329e-6
allele num: 118206
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1106A>C
  hgvsp: ENSP00000335060.3:p.Gln369Pro
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6420
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hgvs: p.Gln369Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 880
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11534
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

1-45793932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793932
    reference: chr 1
allele count: 1
allele frequency: 8.502244592572439e-6
allele num: 117616
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.1112C>T
  hgvsp: ENSP00000335060.3:p.Ala371Val
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala371Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9454
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11520
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

1-45793953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793953
    reference: chr 1
allele count: 2
allele frequency: 1.73238167833137e-5
allele num: 115448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.*17G>A
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8566
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6494
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63858
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-45793972-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793972
    reference: chr 1
allele count: 5
allele frequency: 4.423526081109774e-5
allele num: 113032
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.*36A>C
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23382
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14638
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
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genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1384
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 914
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genotype quality: GenotypeQuality
  all individuals: 1223
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5426
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genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2241
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8836
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8520
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.360109393881575e-5
  allele num: 62892
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

1-45793979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793979
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793979
    reference: chr 1
allele count: 1
allele frequency: 8.919174441213721e-6
allele num: 112118
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.*43G>A
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9648
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
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genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
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genotype depth: GenotypeDepth
  all individuals: 22966
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.599385835839038e-5
  allele num: 62524
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8482
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11348
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-45793984-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793984
    reference: chr 1
allele count: 6
allele frequency: 5.399082156033474e-5
allele num: 111130
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.*48A>T
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6412
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24341
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6354
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 812
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8452
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-45793986-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793986
    reference: chr 1
allele count: 8
allele frequency: 7.243358745450265e-5
allele num: 110446
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.*50C>G
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 796
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61842
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13166
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-45793986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45793986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45793986
    reference: chr 1
allele count: 1
allele frequency: 9.054198431812831e-6
allele num: 110446
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186603
  ensembl protein: ENSP00000335060
  ensembl transcript: ENST00000334815
  gene symbol: HPDL
  hgvsc: ENST00000334815.3:c.*50C>T
  variant of: http://identifiers.org/hgnc/28242
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8630
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8424
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13166
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

1-45794938-TAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794935
    reference: chr 1
allele count: 135
allele frequency: 1.112319557049634e-3
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*346_*348delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1416_*1418delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*95_*97delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1416_*1418delGTT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.*37_*39delGTT
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: TAAC
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

1-45794940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794940
    reference: chr 1
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1417T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1417T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*96T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*347T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.*38T>C
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-45794957-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794957
    reference: chr 1
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1400C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*79C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.908C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1400C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*449C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*330C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.*21C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*916C>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-45794963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794963
    reference: chr 1
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1394C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1394C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*443C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*910C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.*15C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.902C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*324C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-45794974-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794974
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*899C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*313C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*432C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1383C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*62C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1383C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.891C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-45794982-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794983
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1636dupC
  hgvsp: ENSP00000361170.3:p.Gln546ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1603dupC
  hgvsp: ENSP00000361187.3:p.Gln535ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1564dupC
  hgvsp: ENSP00000346354.6:p.Gln522ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*890dupC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*304dupC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1606dupC
  hgvsp: ENSP00000361182.3:p.Gln536ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.636dupC
  hgvsp: ENSP00000432528.1:p.Gln213ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1561dupC
  hgvsp: ENSP00000347685.2:p.Gln521ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.646dupC
  hgvsp: ENSP00000432330.1:p.Gln216ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1594dupC
  hgvsp: ENSP00000361172.5:p.Gln532ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.688dupC
  hgvsp: ENSP00000433076.2:p.Gln230ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1374dupC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1645dupC
  hgvsp: ENSP00000408176.1:p.Gln549ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1561dupC
  hgvsp: ENSP00000407590.2:p.Gln521ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1594dupC
  hgvsp: ENSP00000409718.1:p.Gln532ProfsTer11
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.882dupC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*53dupC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1603dupC
  hgvsp: ENSP00000433130.2:p.Gln535ProfsTer?
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*423dupC
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln546ProfsTer11
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-45794983-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794983
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.882C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1645C>G
  hgvsp: ENSP00000408176.1:p.Gln549Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1561C>G
  hgvsp: ENSP00000361176.1:p.Gln521Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*423C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*304C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1564C>G
  hgvsp: ENSP00000346354.6:p.Gln522Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1603C>G
  hgvsp: ENSP00000361187.3:p.Gln535Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.646C>G
  hgvsp: ENSP00000432330.1:p.Gln216Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.688C>G
  hgvsp: ENSP00000433076.2:p.Gln230Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.646C>G
  hgvsp: ENSP00000437093.1:p.Gln216Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1561C>G
  hgvsp: ENSP00000347685.2:p.Gln521Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1636C>G
  hgvsp: ENSP00000361170.3:p.Gln546Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*53C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.636C>G
  hgvsp: ENSP00000432528.1:p.Gln213Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1603C>G
  hgvsp: ENSP00000433130.2:p.Gln535Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1594C>G
  hgvsp: ENSP00000409718.1:p.Gln532Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1374C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1561C>G
  hgvsp: ENSP00000407590.2:p.Gln521Glu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*890C>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln546Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-45794987-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45794987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45794986
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1589delC
  hgvsp: ENSP00000409718.1:p.Ala530GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.877delC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*299delC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.641delC
  hgvsp: ENSP00000437093.1:p.Ala214GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1589delC
  hgvsp: ENSP00000361172.5:p.Ala530GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1640delC
  hgvsp: ENSP00000408176.1:p.Ala547GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1556delC
  hgvsp: ENSP00000361176.1:p.Ala519GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1559delC
  hgvsp: ENSP00000346354.6:p.Ala520GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.631delC
  hgvsp: ENSP00000432528.1:p.Ala211GlufsTer?
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1369delC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1598delC
  hgvsp: ENSP00000361187.3:p.Ala533GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1631delC
  hgvsp: ENSP00000361170.3:p.Ala544GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1556delC
  hgvsp: ENSP00000347685.2:p.Ala519GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.683delC
  hgvsp: ENSP00000433076.2:p.Ala228GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1556delC
  hgvsp: ENSP00000407590.2:p.Ala519GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*48delC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1598delC
  hgvsp: ENSP00000433130.2:p.Ala533GlufsTer?
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1369delC
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1601delC
  hgvsp: ENSP00000361182.3:p.Ala534GlufsTer24
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala544GlufsTer24
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

1-45795006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795006
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795006
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1571C>T
  hgvsp: ENSP00000361172.5:p.Ala524Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*867C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1613C>T
  hgvsp: ENSP00000361170.3:p.Ala538Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1351C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1538C>T
  hgvsp: ENSP00000407590.2:p.Ala513Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*281C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1541C>T
  hgvsp: ENSP00000346354.6:p.Ala514Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*400C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.613C>T
  hgvsp: ENSP00000432528.1:p.Ala205Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1583C>T
  hgvsp: ENSP00000361182.3:p.Ala528Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.665C>T
  hgvsp: ENSP00000433076.2:p.Ala222Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1538C>T
  hgvsp: ENSP00000347685.2:p.Ala513Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.623C>T
  hgvsp: ENSP00000432330.1:p.Ala208Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1622C>T
  hgvsp: ENSP00000408176.1:p.Ala541Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1538C>T
  hgvsp: ENSP00000361176.1:p.Ala513Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1351C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1580C>T
  hgvsp: ENSP00000433130.2:p.Ala527Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.859C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala538Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

1-45795011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795011
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1536T>C
  hgvsp: ENST00000354383.6:c.1536T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1346T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1533T>C
  hgvsp: ENST00000355498.2:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1566T>C
  hgvsp: ENST00000372100.5:c.1566T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.608T>C
  hgvsp: ENST00000529892.1:c.608T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1608T>C
  hgvsp: ENST00000372098.3:c.1608T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.618T>C
  hgvsp: ENST00000488731.2:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.854T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1533T>C
  hgvsp: ENST00000372104.1:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1346T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1533T>C
  hgvsp: ENST00000456914.2:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1578T>C
  hgvsp: ENST00000372110.3:c.1578T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.660T>C
  hgvsp: ENST00000528332.2:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.618T>C
  hgvsp: ENST00000529984.1:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1617T>C
  hgvsp: ENST00000450313.1:c.1617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1575T>C
  hgvsp: ENST00000528013.2:c.1575T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*395T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1575T>C
  hgvsp: ENST00000372115.3:c.1575T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr536Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-45795013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795013
    reference: chr 1
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.852A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1564A>G
  hgvsp: ENSP00000361172.5:p.Thr522Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1531A>G
  hgvsp: ENSP00000361176.1:p.Thr511Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.616A>G
  hgvsp: ENSP00000432330.1:p.Thr206Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.658A>G
  hgvsp: ENSP00000433076.2:p.Thr220Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.606A>G
  hgvsp: ENSP00000432528.1:p.Thr203Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.616A>G
  hgvsp: ENSP00000437093.1:p.Thr206Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1344A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*393A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1564A>G
  hgvsp: ENSP00000409718.1:p.Thr522Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1344A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1576A>G
  hgvsp: ENSP00000361182.3:p.Thr526Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*860A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1573A>G
  hgvsp: ENSP00000361187.3:p.Thr525Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1573A>G
  hgvsp: ENSP00000433130.2:p.Thr525Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1531A>G
  hgvsp: ENSP00000407590.2:p.Thr511Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1615A>G
  hgvsp: ENSP00000408176.1:p.Thr539Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1531A>G
  hgvsp: ENSP00000347685.2:p.Thr511Ala
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1534A>G
  hgvsp: ENSP00000346354.6:p.Thr512Ala
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr536Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

1-45795015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795015
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795015
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1574C>T
  hgvsp: ENSP00000361182.3:p.Ser525Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.656C>T
  hgvsp: ENSP00000433076.2:p.Ser219Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1571C>T
  hgvsp: ENSP00000361187.3:p.Ser524Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1532C>T
  hgvsp: ENSP00000346354.6:p.Ser511Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.604C>T
  hgvsp: ENSP00000432528.1:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1529C>T
  hgvsp: ENSP00000407590.2:p.Ser510Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.614C>T
  hgvsp: ENSP00000437093.1:p.Ser205Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1342C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1613C>T
  hgvsp: ENSP00000408176.1:p.Ser538Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1604C>T
  hgvsp: ENSP00000361170.3:p.Ser535Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1529C>T
  hgvsp: ENSP00000361176.1:p.Ser510Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.614C>T
  hgvsp: ENSP00000432330.1:p.Ser205Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1562C>T
  hgvsp: ENSP00000361172.5:p.Ser521Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1562C>T
  hgvsp: ENSP00000409718.1:p.Ser521Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1342C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*391C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.850C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser535Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-45795019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795019
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795019
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1609A>G
  hgvsp: ENSP00000408176.1:p.Ile537Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1338A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1525A>G
  hgvsp: ENSP00000347685.2:p.Ile509Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1525A>G
  hgvsp: ENSP00000407590.2:p.Ile509Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.610A>G
  hgvsp: ENSP00000432330.1:p.Ile204Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.652A>G
  hgvsp: ENSP00000433076.2:p.Ile218Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1338A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1528A>G
  hgvsp: ENSP00000346354.6:p.Ile510Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1570A>G
  hgvsp: ENSP00000361182.3:p.Ile524Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*268A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*854A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1567A>G
  hgvsp: ENSP00000433130.2:p.Ile523Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1600A>G
  hgvsp: ENSP00000361170.3:p.Ile534Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1525A>G
  hgvsp: ENSP00000361176.1:p.Ile509Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1558A>G
  hgvsp: ENSP00000361172.5:p.Ile520Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*387A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1558A>G
  hgvsp: ENSP00000409718.1:p.Ile520Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.610A>G
  hgvsp: ENSP00000437093.1:p.Ile204Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.846A>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile534Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-45795020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795020
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.599C>T
  hgvsp: ENST00000529892.1:c.599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*386C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1599C>T
  hgvsp: ENST00000372098.3:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1524C>T
  hgvsp: ENST00000372104.1:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1527C>T
  hgvsp: ENST00000354383.6:c.1527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1566C>T
  hgvsp: ENST00000528013.2:c.1566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1524C>T
  hgvsp: ENST00000456914.2:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1566C>T
  hgvsp: ENST00000372115.3:c.1566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1337C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1569C>T
  hgvsp: ENST00000372110.3:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1557C>T
  hgvsp: ENST00000448481.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1608C>T
  hgvsp: ENST00000450313.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.609C>T
  hgvsp: ENST00000529984.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1557C>T
  hgvsp: ENST00000372100.5:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.609C>T
  hgvsp: ENST00000488731.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1524C>T
  hgvsp: ENST00000355498.2:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.845C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His533His
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: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-45795022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795022
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795022
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.843C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1522C>T
  hgvsp: ENSP00000361176.1:p.His508Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1606C>T
  hgvsp: ENSP00000408176.1:p.His536Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1525C>T
  hgvsp: ENSP00000346354.6:p.His509Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1335C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.649C>T
  hgvsp: ENSP00000433076.2:p.His217Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1597C>T
  hgvsp: ENSP00000361170.3:p.His533Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1335C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.607C>T
  hgvsp: ENSP00000437093.1:p.His203Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*265C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1522C>T
  hgvsp: ENSP00000347685.2:p.His508Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1567C>T
  hgvsp: ENSP00000361182.3:p.His523Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.607C>T
  hgvsp: ENSP00000432330.1:p.His203Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1522C>T
  hgvsp: ENSP00000407590.2:p.His508Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1555C>T
  hgvsp: ENSP00000361172.5:p.His519Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*384C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1564C>T
  hgvsp: ENSP00000361187.3:p.His522Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1555C>T
  hgvsp: ENSP00000409718.1:p.His519Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.597C>T
  hgvsp: ENSP00000432528.1:p.His200Tyr
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His533Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

1-45795027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795027
    reference: chr 1
allele count: 397
allele frequency: 3.269911868874063e-3
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1592G>A
  hgvsp: ENSP00000361170.3:p.Arg531Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1330G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1562G>A
  hgvsp: ENSP00000361182.3:p.Arg521Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1517G>A
  hgvsp: ENSP00000407590.2:p.Arg506Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.592G>A
  hgvsp: ENSP00000432528.1:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1330G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1559G>A
  hgvsp: ENSP00000433130.2:p.Arg520Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1517G>A
  hgvsp: ENSP00000347685.2:p.Arg506Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.838G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1559G>A
  hgvsp: ENSP00000361187.3:p.Arg520Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1550G>A
  hgvsp: ENSP00000409718.1:p.Arg517Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1601G>A
  hgvsp: ENSP00000408176.1:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.602G>A
  hgvsp: ENSP00000432330.1:p.Arg201Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1550G>A
  hgvsp: ENSP00000361172.5:p.Arg517Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.602G>A
  hgvsp: ENSP00000437093.1:p.Arg201Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1520G>A
  hgvsp: ENSP00000346354.6:p.Arg507Gln
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg531Gln
num of homozygotes: 7
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-45795027-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795027
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1517G>C
  hgvsp: ENSP00000407590.2:p.Arg506Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1592G>C
  hgvsp: ENSP00000361170.3:p.Arg531Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.*9G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*379G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1517G>C
  hgvsp: ENSP00000347685.2:p.Arg506Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1330G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1562G>C
  hgvsp: ENSP00000361182.3:p.Arg521Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.602G>C
  hgvsp: ENSP00000432330.1:p.Arg201Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1517G>C
  hgvsp: ENSP00000361176.1:p.Arg506Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1550G>C
  hgvsp: ENSP00000409718.1:p.Arg517Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.592G>C
  hgvsp: ENSP00000432528.1:p.Arg198Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1601G>C
  hgvsp: ENSP00000408176.1:p.Arg534Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1550G>C
  hgvsp: ENSP00000361172.5:p.Arg517Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1520G>C
  hgvsp: ENSP00000346354.6:p.Arg507Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.602G>C
  hgvsp: ENSP00000437093.1:p.Arg201Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1559G>C
  hgvsp: ENSP00000433130.2:p.Arg520Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.644G>C
  hgvsp: ENSP00000433076.2:p.Arg215Pro
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg531Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-45795028-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795028
    reference: chr 1
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1600C>A
  hgvsp: ENST00000450313.1:c.1600C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1549C>A
  hgvsp: ENST00000372100.5:c.1549C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.643C>A
  hgvsp: ENST00000528332.2:c.643C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1329C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1558C>A
  hgvsp: ENST00000528013.2:c.1558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*259C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1561C>A
  hgvsp: ENST00000372110.3:c.1561C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1519C>A
  hgvsp: ENST00000354383.6:c.1519C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.591C>A
  hgvsp: ENST00000529892.1:c.591C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1329C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1516C>A
  hgvsp: ENST00000456914.2:c.1516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1558C>A
  hgvsp: ENST00000372115.3:c.1558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*378C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1516C>A
  hgvsp: ENST00000355498.2:c.1516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1591C>A
  hgvsp: ENST00000372098.3:c.1591C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.601C>A
  hgvsp: ENST00000488731.2:c.601C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.601C>A
  hgvsp: ENST00000529984.1:c.601C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg531Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-45795032-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795032
    reference: chr 1
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.833C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1557C>A
  hgvsp: ENSP00000361182.3:p.Phe519Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1512C>A
  hgvsp: ENSP00000361176.1:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1515C>A
  hgvsp: ENSP00000346354.6:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*255C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1512C>A
  hgvsp: ENSP00000407590.2:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*374C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1545C>A
  hgvsp: ENSP00000361172.5:p.Phe515Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.639C>A
  hgvsp: ENSP00000433076.2:p.Phe213Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1587C>A
  hgvsp: ENSP00000361170.3:p.Phe529Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.597C>A
  hgvsp: ENSP00000432330.1:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.587C>A
  hgvsp: ENSP00000432528.1:p.Phe196Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1554C>A
  hgvsp: ENSP00000361187.3:p.Phe518Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1325C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1596C>A
  hgvsp: ENSP00000408176.1:p.Phe532Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1512C>A
  hgvsp: ENSP00000347685.2:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.597C>A
  hgvsp: ENSP00000437093.1:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*841C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1325C>A
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe529Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-45795040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795040
    reference: chr 1
allele count: 9
allele frequency: 7.413020558777017e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.589G>T
  hgvsp: ENSP00000437093.1:p.Asp197Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.825G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.589G>T
  hgvsp: ENSP00000432330.1:p.Asp197Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1546G>T
  hgvsp: ENSP00000361187.3:p.Asp516Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1588G>T
  hgvsp: ENSP00000408176.1:p.Asp530Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.185G>T
  hgvsp: ENSP00000431292.1:p.Gly62Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.631G>T
  hgvsp: ENSP00000433076.2:p.Asp211Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1537G>T
  hgvsp: ENSP00000361172.5:p.Asp513Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1579G>T
  hgvsp: ENSP00000361170.3:p.Asp527Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1549G>T
  hgvsp: ENSP00000361182.3:p.Asp517Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.579G>T
  hgvsp: ENSP00000432528.1:p.Asp194Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1317G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1504G>T
  hgvsp: ENSP00000347685.2:p.Asp502Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*366G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1504G>T
  hgvsp: ENSP00000407590.2:p.Asp502Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*247G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*833G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1507G>T
  hgvsp: ENSP00000346354.6:p.Asp503Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1546G>T
  hgvsp: ENSP00000433130.2:p.Asp516Tyr
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp527Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

1-45795040-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795040
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.579G>C
  hgvsp: ENSP00000432528.1:p.Asp194His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1579G>C
  hgvsp: ENSP00000361170.3:p.Asp527His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1537G>C
  hgvsp: ENSP00000361172.5:p.Asp513His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*247G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.631G>C
  hgvsp: ENSP00000433076.2:p.Asp211His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1546G>C
  hgvsp: ENSP00000361187.3:p.Asp516His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1504G>C
  hgvsp: ENSP00000347685.2:p.Asp502His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*833G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1537G>C
  hgvsp: ENSP00000409718.1:p.Asp513His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1507G>C
  hgvsp: ENSP00000346354.6:p.Asp503His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.589G>C
  hgvsp: ENSP00000437093.1:p.Asp197His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1549G>C
  hgvsp: ENSP00000361182.3:p.Asp517His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1546G>C
  hgvsp: ENSP00000433130.2:p.Asp516His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1317G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1317G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1588G>C
  hgvsp: ENSP00000408176.1:p.Asp530His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.825G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1504G>C
  hgvsp: ENSP00000407590.2:p.Asp502His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1504G>C
  hgvsp: ENSP00000361176.1:p.Asp502His
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp527His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-45795043-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795043
    reference: chr 1
allele count: 302
allele frequency: 2.487521209824885e-3
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*244C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1543C>A
  hgvsp: ENSP00000433130.2:p.Leu515Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1585C>A
  hgvsp: ENSP00000408176.1:p.Leu529Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1501C>A
  hgvsp: ENSP00000347685.2:p.Leu501Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.586C>A
  hgvsp: ENSP00000432330.1:p.Leu196Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.576C>A
  hgvsp: ENSP00000432528.1:p.Leu193Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.628C>A
  hgvsp: ENSP00000433076.2:p.Leu210Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1534C>A
  hgvsp: ENSP00000361172.5:p.Leu512Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1534C>A
  hgvsp: ENSP00000409718.1:p.Leu512Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1546C>A
  hgvsp: ENSP00000361182.3:p.Leu516Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1504C>A
  hgvsp: ENSP00000346354.6:p.Leu502Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1501C>A
  hgvsp: ENSP00000407590.2:p.Leu501Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.586C>A
  hgvsp: ENSP00000437093.1:p.Leu196Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1543C>A
  hgvsp: ENSP00000361187.3:p.Leu515Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.182C>A
  hgvsp: ENSP00000431292.1:p.Pro61His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1314C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1314C>A
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu526Met
num of homozygotes: 7
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-45795059-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795059
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795059
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1485C>A
  hgvsp: ENST00000456914.2:c.1485C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1527C>A
  hgvsp: ENST00000528013.2:c.1527C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.560C>A
  hgvsp: ENST00000529892.1:c.560C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1485C>A
  hgvsp: ENST00000355498.2:c.1485C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1298C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1488C>A
  hgvsp: ENST00000354383.6:c.1488C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1530C>A
  hgvsp: ENST00000372110.3:c.1530C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.806C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.570C>A
  hgvsp: ENST00000488731.2:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.166C>A
  hgvsp: ENSP00000431292.1:p.His56Asn
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1518C>A
  hgvsp: ENST00000372100.5:c.1518C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1560C>A
  hgvsp: ENST00000372098.3:c.1560C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1569C>A
  hgvsp: ENST00000450313.1:c.1569C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1527C>A
  hgvsp: ENST00000372115.3:c.1527C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1485C>A
  hgvsp: ENST00000372104.1:c.1485C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1298C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.570C>A
  hgvsp: ENST00000529984.1:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.612C>A
  hgvsp: ENST00000528332.2:c.612C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*228C>A
  variant of: http://identifiers.org/hgnc/7527
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His56Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-45795060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795060
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795060
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1484G>A
  hgvsp: ENSP00000347685.2:p.Arg495His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1297G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.569G>A
  hgvsp: ENSP00000437093.1:p.Arg190His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1487G>A
  hgvsp: ENSP00000346354.6:p.Arg496His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1484G>A
  hgvsp: ENSP00000407590.2:p.Arg495His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1529G>A
  hgvsp: ENSP00000361182.3:p.Arg510His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.569G>A
  hgvsp: ENSP00000432330.1:p.Arg190His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*813G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.165G>A
  hgvsp: ENST00000531105.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1526G>A
  hgvsp: ENSP00000433130.2:p.Arg509His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1517G>A
  hgvsp: ENSP00000361172.5:p.Arg506His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1297G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1484G>A
  hgvsp: ENSP00000361176.1:p.Arg495His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1559G>A
  hgvsp: ENSP00000361170.3:p.Arg520His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.611G>A
  hgvsp: ENSP00000433076.2:p.Arg204His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.805G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1526G>A
  hgvsp: ENSP00000361187.3:p.Arg509His
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*346G>A
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg520His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-45795061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795061
    reference: chr 1
allele count: 6
allele frequency: 4.942502224126001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1483C>T
  hgvsp: ENSP00000347685.2:p.Arg495Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1296C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*345C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1558C>T
  hgvsp: ENSP00000361170.3:p.Arg520Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.164C>T
  hgvsp: ENSP00000431292.1:p.Pro55Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1525C>T
  hgvsp: ENSP00000433130.2:p.Arg509Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1528C>T
  hgvsp: ENSP00000361182.3:p.Arg510Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*226C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1486C>T
  hgvsp: ENSP00000346354.6:p.Arg496Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1567C>T
  hgvsp: ENSP00000408176.1:p.Arg523Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1516C>T
  hgvsp: ENSP00000361172.5:p.Arg506Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.804C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1483C>T
  hgvsp: ENSP00000407590.2:p.Arg495Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.610C>T
  hgvsp: ENSP00000433076.2:p.Arg204Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1483C>T
  hgvsp: ENSP00000361176.1:p.Arg495Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1516C>T
  hgvsp: ENSP00000409718.1:p.Arg506Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.558C>T
  hgvsp: ENSP00000432528.1:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1525C>T
  hgvsp: ENSP00000361187.3:p.Arg509Cys
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1296C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg520Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-45795066-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795066
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1478A>T
  hgvsp: ENSP00000347685.2:p.Lys493Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1478A>T
  hgvsp: ENSP00000361176.1:p.Lys493Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1511A>T
  hgvsp: ENSP00000409718.1:p.Lys504Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1481A>T
  hgvsp: ENSP00000346354.6:p.Lys494Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1523A>T
  hgvsp: ENSP00000361182.3:p.Lys508Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.159A>T
  hgvsp: ENSP00000431292.1:p.Lys53Asn
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.605A>T
  hgvsp: ENSP00000433076.2:p.Lys202Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1291A>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1553A>T
  hgvsp: ENSP00000361170.3:p.Lys518Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1520A>T
  hgvsp: ENSP00000361187.3:p.Lys507Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.563A>T
  hgvsp: ENSP00000437093.1:p.Lys188Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.553A>T
  hgvsp: ENSP00000432528.1:p.Lys185Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1511A>T
  hgvsp: ENSP00000361172.5:p.Lys504Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.563A>T
  hgvsp: ENSP00000432330.1:p.Lys188Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1520A>T
  hgvsp: ENSP00000433130.2:p.Lys507Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1562A>T
  hgvsp: ENSP00000408176.1:p.Lys521Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*221A>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.799A>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1478A>T
  hgvsp: ENSP00000407590.2:p.Lys493Met
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys518Met
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-45795066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795066
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1291A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1511A>G
  hgvsp: ENSP00000361172.5:p.Lys504Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*221A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1562A>G
  hgvsp: ENSP00000408176.1:p.Lys521Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.553A>G
  hgvsp: ENSP00000432528.1:p.Lys185Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1511A>G
  hgvsp: ENSP00000409718.1:p.Lys504Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1520A>G
  hgvsp: ENSP00000433130.2:p.Lys507Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.563A>G
  hgvsp: ENSP00000437093.1:p.Lys188Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1553A>G
  hgvsp: ENSP00000361170.3:p.Lys518Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1520A>G
  hgvsp: ENSP00000361187.3:p.Lys507Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1523A>G
  hgvsp: ENSP00000361182.3:p.Lys508Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1478A>G
  hgvsp: ENSP00000347685.2:p.Lys493Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1481A>G
  hgvsp: ENSP00000346354.6:p.Lys494Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*807A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.799A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*340A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.605A>G
  hgvsp: ENSP00000433076.2:p.Lys202Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1478A>G
  hgvsp: ENSP00000407590.2:p.Lys493Arg
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1291A>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys518Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-45795072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795072
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795072
    reference: chr 1
allele count: 5
allele frequency: 4.119023297195769e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.153G>A
  hgvsp: ENST00000531105.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1475G>A
  hgvsp: ENSP00000346354.6:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1514G>A
  hgvsp: ENSP00000361187.3:p.Arg505Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1514G>A
  hgvsp: ENSP00000433130.2:p.Arg505Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1505G>A
  hgvsp: ENSP00000361172.5:p.Arg502Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1472G>A
  hgvsp: ENSP00000347685.2:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1556G>A
  hgvsp: ENSP00000408176.1:p.Arg519Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.793G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*801G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.557G>A
  hgvsp: ENSP00000432330.1:p.Arg186Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1517G>A
  hgvsp: ENSP00000361182.3:p.Arg506Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.547G>A
  hgvsp: ENSP00000432528.1:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1547G>A
  hgvsp: ENSP00000361170.3:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.557G>A
  hgvsp: ENSP00000437093.1:p.Arg186Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1285G>A
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg516Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

1-45795073-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795073
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795073
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1284C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.556C>A
  hgvsp: ENST00000529984.1:c.556C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1555C>A
  hgvsp: ENST00000450313.1:c.1555C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1474C>A
  hgvsp: ENST00000354383.6:c.1474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.546C>A
  hgvsp: ENST00000529892.1:c.546C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.792C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1516C>A
  hgvsp: ENST00000372110.3:c.1516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1546C>A
  hgvsp: ENST00000372098.3:c.1546C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.598C>A
  hgvsp: ENST00000528332.2:c.598C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1504C>A
  hgvsp: ENST00000372100.5:c.1504C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.152C>A
  hgvsp: ENSP00000431292.1:p.Ser51Ter
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1471C>A
  hgvsp: ENST00000355498.2:c.1471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1504C>A
  hgvsp: ENST00000448481.1:c.1504C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1513C>A
  hgvsp: ENST00000372115.3:c.1513C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*800C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1471C>A
  hgvsp: ENST00000372104.1:c.1471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1513C>A
  hgvsp: ENST00000528013.2:c.1513C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*333C>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1284C>A
  variant of: http://identifiers.org/hgnc/7527
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser51Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-45795077-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795077
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1467C>G
  hgvsp: ENSP00000347685.2:p.Cys489Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1509C>G
  hgvsp: ENSP00000433130.2:p.Cys503Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1509C>G
  hgvsp: ENSP00000361187.3:p.Cys503Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.542C>G
  hgvsp: ENSP00000432528.1:p.Cys181Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*329C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1467C>G
  hgvsp: ENSP00000407590.2:p.Cys489Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1512C>G
  hgvsp: ENSP00000361182.3:p.Cys504Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1280C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1500C>G
  hgvsp: ENSP00000409718.1:p.Cys500Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1470C>G
  hgvsp: ENSP00000346354.6:p.Cys490Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*210C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1500C>G
  hgvsp: ENSP00000361172.5:p.Cys500Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1551C>G
  hgvsp: ENSP00000408176.1:p.Cys517Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1542C>G
  hgvsp: ENSP00000361170.3:p.Cys514Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1467C>G
  hgvsp: ENSP00000361176.1:p.Cys489Trp
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*796C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1280C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.788C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.552C>G
  hgvsp: ENSP00000432330.1:p.Cys184Trp
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys514Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-45795078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795078
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1541G>A
  hgvsp: ENSP00000361170.3:p.Cys514Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.787G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1511G>A
  hgvsp: ENSP00000361182.3:p.Cys504Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.593G>A
  hgvsp: ENSP00000433076.2:p.Cys198Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1499G>A
  hgvsp: ENSP00000361172.5:p.Cys500Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.541G>A
  hgvsp: ENSP00000432528.1:p.Cys181Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1469G>A
  hgvsp: ENSP00000346354.6:p.Cys490Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1279G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1466G>A
  hgvsp: ENSP00000347685.2:p.Cys489Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1279G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.551G>A
  hgvsp: ENSP00000432330.1:p.Cys184Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1550G>A
  hgvsp: ENSP00000408176.1:p.Cys517Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1508G>A
  hgvsp: ENSP00000361187.3:p.Cys503Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1466G>A
  hgvsp: ENSP00000361176.1:p.Cys489Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1508G>A
  hgvsp: ENSP00000433130.2:p.Cys503Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1499G>A
  hgvsp: ENSP00000409718.1:p.Cys500Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1466G>A
  hgvsp: ENSP00000407590.2:p.Cys489Tyr
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.551G>A
  hgvsp: ENSP00000437093.1:p.Cys184Tyr
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys514Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-45795080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795080
    reference: chr 1
allele count: 14
allele frequency: 1.153516577681102e-4
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1506G>A
  hgvsp: ENST00000528013.2:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1467G>A
  hgvsp: ENST00000354383.6:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*793G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.549G>A
  hgvsp: ENST00000488731.2:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.549G>A
  hgvsp: ENST00000529984.1:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*326G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.539G>A
  hgvsp: ENST00000529892.1:c.539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1464G>A
  hgvsp: ENST00000355498.2:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1464G>A
  hgvsp: ENST00000456914.2:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1539G>A
  hgvsp: ENST00000372098.3:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1277G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.145G>A
  hgvsp: ENSP00000431292.1:p.Val49Met
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1497G>A
  hgvsp: ENST00000372100.5:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1277G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1509G>A
  hgvsp: ENST00000372110.3:c.1509G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1497G>A
  hgvsp: ENST00000448481.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.785G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1506G>A
  hgvsp: ENST00000372115.3:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val49Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-45795084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795084
    reference: chr 1
allele count: 956
allele frequency: 7.878687984176694e-3
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1544C>T
  hgvsp: ENSP00000408176.1:p.Ser515Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.535C>T
  hgvsp: ENSP00000432528.1:p.Ser179Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1505C>T
  hgvsp: ENSP00000361182.3:p.Ser502Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*322C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1273C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.587C>T
  hgvsp: ENSP00000433076.2:p.Ser196Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.781C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1460C>T
  hgvsp: ENSP00000361176.1:p.Ser487Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*789C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1535C>T
  hgvsp: ENSP00000361170.3:p.Ser512Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1493C>T
  hgvsp: ENSP00000361172.5:p.Ser498Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.545C>T
  hgvsp: ENSP00000437093.1:p.Ser182Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1460C>T
  hgvsp: ENSP00000407590.2:p.Ser487Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1460C>T
  hgvsp: ENSP00000347685.2:p.Ser487Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.141C>T
  hgvsp: ENST00000531105.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1463C>T
  hgvsp: ENSP00000346354.6:p.Ser488Phe
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*203C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser512Phe
num of homozygotes: 6
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-45795091-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795091
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1453G>T
  hgvsp: ENSP00000347685.2:p.Val485Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1495G>T
  hgvsp: ENSP00000433130.2:p.Val499Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*196G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1528G>T
  hgvsp: ENSP00000361170.3:p.Val510Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1453G>T
  hgvsp: ENSP00000361176.1:p.Val485Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1266G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.528G>T
  hgvsp: ENSP00000432528.1:p.Val177Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.538G>T
  hgvsp: ENSP00000437093.1:p.Val180Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1453G>T
  hgvsp: ENSP00000407590.2:p.Val485Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.134G>T
  hgvsp: ENSP00000431292.1:p.Gly45Val
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1456G>T
  hgvsp: ENSP00000346354.6:p.Val486Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.580G>T
  hgvsp: ENSP00000433076.2:p.Val194Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1266G>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1486G>T
  hgvsp: ENSP00000409718.1:p.Val496Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1486G>T
  hgvsp: ENSP00000361172.5:p.Val496Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1498G>T
  hgvsp: ENSP00000361182.3:p.Val500Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.538G>T
  hgvsp: ENSP00000432330.1:p.Val180Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1495G>T
  hgvsp: ENSP00000361187.3:p.Val499Leu
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.774G>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val510Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-45795098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795098
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795098
    reference: chr 1
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1491G>A
  hgvsp: ENST00000372110.3:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*775G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.767G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1479G>A
  hgvsp: ENST00000372100.5:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1259G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1530G>A
  hgvsp: ENST00000450313.1:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1521G>A
  hgvsp: ENST00000372098.3:c.1521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1446G>A
  hgvsp: ENST00000372104.1:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1449G>A
  hgvsp: ENST00000354383.6:c.1449G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.127G>A
  hgvsp: ENSP00000431292.1:p.Val43Ile
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.573G>A
  hgvsp: ENST00000528332.2:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1479G>A
  hgvsp: ENST00000448481.1:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1446G>A
  hgvsp: ENST00000456914.2:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.521G>A
  hgvsp: ENST00000529892.1:c.521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.531G>A
  hgvsp: ENST00000529984.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1446G>A
  hgvsp: ENST00000355498.2:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1259G>A
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1488G>A
  hgvsp: ENST00000372115.3:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7527
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val43Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-45795103-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795103
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795103
    reference: chr 1
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1441A>C
  hgvsp: ENSP00000361176.1:p.Lys481Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1516A>C
  hgvsp: ENSP00000361170.3:p.Lys506Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1441A>C
  hgvsp: ENSP00000347685.2:p.Lys481Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1474A>C
  hgvsp: ENSP00000361172.5:p.Lys492Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.526A>C
  hgvsp: ENSP00000437093.1:p.Lys176Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1444A>C
  hgvsp: ENSP00000346354.6:p.Lys482Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.122A>C
  hgvsp: ENSP00000431292.1:p.Gln41Pro
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1483A>C
  hgvsp: ENSP00000361187.3:p.Lys495Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1441A>C
  hgvsp: ENSP00000407590.2:p.Lys481Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*303A>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.516A>C
  hgvsp: ENSP00000432528.1:p.Lys173Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.568A>C
  hgvsp: ENSP00000433076.2:p.Lys190Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1474A>C
  hgvsp: ENSP00000409718.1:p.Lys492Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1486A>C
  hgvsp: ENSP00000361182.3:p.Lys496Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.526A>C
  hgvsp: ENSP00000432330.1:p.Lys176Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1483A>C
  hgvsp: ENSP00000433130.2:p.Lys495Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1525A>C
  hgvsp: ENSP00000408176.1:p.Lys509Gln
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.762A>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1254A>C
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys506Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-45795112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795112
    reference: chr 1
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-3C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-3C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1510-3C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-45795114-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795114
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795115
    reference: chr 1
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-6dupT
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-6dupT
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1510-6dupT
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: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

1-45795118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795118
    reference: chr 1
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-9T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-9T>C
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

1-45795129-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795129
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795129
    reference: chr 1
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-20C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-20C>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-45795130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795130
    reference: chr 1
allele count: 8
allele frequency: 6.616382162233691e-5
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-21C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-21C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-45795132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795132
    reference: chr 1
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-23T>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-23T>C
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

1-45795135-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795135
    reference: chr 1
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-26G>C
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-26G>C
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

1-45795140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795140
    reference: chr 1
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-31A>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-31A>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-45795146-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795146
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795146
    reference: chr 1
allele count: 5
allele frequency: 4.144493625768803e-5
allele num: 120642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-37C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-37C>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-45795149-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795149
    reference: chr 1
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-40C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-40C>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-45795153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795153
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795153
    reference: chr 1
allele count: 2
allele frequency: 1.659172736473594e-5
allele num: 120542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361172
  ensembl transcript: ENST00000372100
  gene symbol: MUTYH
  hgvsc: ENST00000372100.5:c.1468-44C>G
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-44C>G
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-45795157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45795157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45795157
    reference: chr 1
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361170
  ensembl transcript: ENST00000372098
  gene symbol: MUTYH
  hgvsc: ENST00000372098.3:c.1510-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000437093
  ensembl transcript: ENST00000529984
  gene symbol: MUTYH
  hgvsc: ENST00000529984.1:c.520-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433130
  ensembl transcript: ENST00000528013
  gene symbol: MUTYH
  hgvsc: ENST00000528013.2:c.1477-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl transcript: ENST00000482094
  gene symbol: MUTYH
  hgvsc: ENST00000482094.1:n.756-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432330
  ensembl transcript: ENST00000488731
  gene symbol: MUTYH
  hgvsc: ENST00000488731.2:c.520-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000347685
  ensembl transcript: ENST00000355498
  gene symbol: MUTYH
  hgvsc: ENST00000355498.2:c.1435-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431264
  ensembl transcript: ENST00000485271
  gene symbol: MUTYH
  hgvsc: ENST00000485271.1:c.*178-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361176
  ensembl transcript: ENST00000372104
  gene symbol: MUTYH
  hgvsc: ENST00000372104.1:c.1435-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000407590
  ensembl transcript: ENST00000456914
  gene symbol: MUTYH
  hgvsc: ENST00000456914.2:c.1435-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000408176
  ensembl transcript: ENST00000450313
  gene symbol: MUTYH
  hgvsc: ENST00000450313.1:c.1519-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433843
  ensembl transcript: ENST00000475516
  gene symbol: MUTYH
  hgvsc: ENST00000475516.1:c.*1248-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000431292
  ensembl transcript: ENST00000531105
  gene symbol: MUTYH
  hgvsc: ENST00000531105.1:c.116-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361182
  ensembl transcript: ENST00000372110
  gene symbol: MUTYH
  hgvsc: ENST00000372110.3:c.1480-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436430
  ensembl transcript: ENST00000533178
  gene symbol: MUTYH
  hgvsc: ENST00000533178.1:c.*764-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000433076
  ensembl transcript: ENST00000528332
  gene symbol: MUTYH
  hgvsc: ENST00000528332.2:c.562-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000435889
  ensembl transcript: ENST00000467459
  gene symbol: MUTYH
  hgvsc: ENST00000467459.1:c.*297-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000361187
  ensembl transcript: ENST00000372115
  gene symbol: MUTYH
  hgvsc: ENST00000372115.3:c.1477-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000436597
  ensembl transcript: ENST00000481571
  gene symbol: MUTYH
  hgvsc: ENST00000481571.1:c.*1248-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000346354
  ensembl transcript: ENST00000354383
  gene symbol: MUTYH
  hgvsc: ENST00000354383.6:c.1438-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000432528
  ensembl transcript: ENST00000529892
  gene symbol: MUTYH
  hgvsc: ENST00000529892.1:c.510-48C>T
  variant of: http://identifiers.org/hgnc/7527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132781
  ensembl protein: ENSP00000409718
  ensembl transcript: ENST00000448481
  gene symbol: MUTYH
  hgvsc: ENST00000448481.1:c.1468-48C>T
  variant of: http://identifiers.org/hgnc/7527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: G

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

African
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
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: 8638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 4.956e1

FS
type: SiteQuality
SIO_000300: 6.065e0

QD
type: SiteQuality
SIO_000300: 6.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.477097e6

MQRankSum
type: SiteQuality
SIO_000300: -4.959e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.347e0

DP
type: SiteQuality
SIO_000300: 1.47512e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.234e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.402e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

FS
type: SiteQuality
SIO_000300: 6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.474514e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.473193e6

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.473193e6

FS
type: SiteQuality
SIO_000300: 3.354e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-5
allele num: 66140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 1.473264e6

VQSLOD
type: SiteQuality
SIO_000300: -7.93e-2

FS
type: SiteQuality
SIO_000300: 8.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e0

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.138e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032048755343986e-5
allele num: 65962
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.467942e6

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537373551025428e-5
allele num: 65046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.182e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.344e0

FS
type: SiteQuality
SIO_000300: 2.494e0

DP
type: SiteQuality
SIO_000300: 1.439892e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.256e0

MQRankSum
type: SiteQuality
SIO_000300: -1.617e0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.430439e6

QD
type: SiteQuality
SIO_000300: 1.33e1

MQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.242e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.224e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

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

African
type: Population
allele count: 2
allele frequency: 2.192021043402017e-4
allele num: 9124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.101e0

QD
type: SiteQuality
SIO_000300: 1.327e1

DP
type: SiteQuality
SIO_000300: 1.373373e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.914e0

Latino
type: Population
allele count: 1
allele frequency: 8.784258608573436e-5
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14160
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.639e0

FS
type: SiteQuality
SIO_000300: 6.59e-1

DP
type: SiteQuality
SIO_000300: 1.278976e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

FS
type: SiteQuality
SIO_000300: 3.742e0

VQSLOD
type: SiteQuality
SIO_000300: -1.648e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.257029e6

QD
type: SiteQuality
SIO_000300: 5.8e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.827031375703942e-5
allele num: 62150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13358
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.652519893899204e-4
allele num: 11310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 2.434e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.297e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.244729e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.49667616334283e-4
allele num: 8424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.605e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.246404e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617024028977071e-5
allele num: 61842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.308e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.246404e6

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 2.605e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeDepth
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4481
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 3754
bin: 6.25e1
variant carriers: 5

GenotypeDepth
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1446
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3461
bin: 9.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1067
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1318
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 14933
bin: 9.75e1
variant carriers: 84

GenotypeDepth
all individuals: 4639
bin: 7.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1008
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4536
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5607
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50898
bin: 9.75e1
variant carriers: 133

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 20
allele frequency: 1.21153380179307e-3
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 114
allele frequency: 1.317309914490409e-2
allele num: 8654
num of homozygotes: 2

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 5.69e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

DP
type: SiteQuality
SIO_000300: 4.592145e6

QD
type: SiteQuality
SIO_000300: 1.707e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 1.737e0

MQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3881
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1067
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2959
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4638
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2619
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4119
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1008
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4298
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4536
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1971
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50844
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5638
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 1.737e0

DP
type: SiteQuality
SIO_000300: 4.587271e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.65e-2

QD
type: SiteQuality
SIO_000300: 1.417e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.587e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

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

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14873
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3889
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2627
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4159
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2962
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1575
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4649
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4489
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4539
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50881
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 5.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 4.589134e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.514e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 4489
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1320
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1591
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4162
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4649
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14876
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2626
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1983
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5800
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50883
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1636
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.43e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -7.147e-1

DP
type: SiteQuality
SIO_000300: 4.589397e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 1.246e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 14873
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4539
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4649
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1983
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2631
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1589
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4173
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50881
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5810
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 11578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.589522e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.582e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -2.195e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.742e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.825e0

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1561dupC
hgvsp: ENSP00000361176.1:p.Gln521ProfsTer11
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436597
ensembl transcript: ENST00000481571
gene symbol: MUTYH
hgvsc: ENST00000481571.1:c.*1374dupC
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000437093
ensembl transcript: ENST00000529984
gene symbol: MUTYH
hgvsc: ENST00000529984.1:c.646dupC
hgvsp: ENSP00000437093.1:p.Gln216ProfsTer11
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4649
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2631
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4178
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1587
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1010
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14874
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50881
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 715
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5814
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 6.031e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

DP
type: SiteQuality
SIO_000300: 4.589517e6

FS
type: SiteQuality
SIO_000300: 3.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361172
ensembl transcript: ENST00000372100
gene symbol: MUTYH
hgvsc: ENST00000372100.5:c.1594C>G
hgvsp: ENSP00000361172.5:p.Gln532Glu
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436597
ensembl transcript: ENST00000481571
gene symbol: MUTYH
hgvsc: ENST00000481571.1:c.*1374C>G
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361182
ensembl transcript: ENST00000372110
gene symbol: MUTYH
hgvsc: ENST00000372110.3:c.1606C>G
hgvsp: ENSP00000361182.3:p.Gln536Glu
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4178
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2631
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1586
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3462
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4649
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14875
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50880
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5817
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.589642e6

VQSLOD
type: SiteQuality
SIO_000300: -4.82e-1

FS
type: SiteQuality
SIO_000300: 2.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.842e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*418delC
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*885delC
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.641delC
hgvsp: ENSP00000432330.1:p.Ala214GlufsTer24
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 1983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4648
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2633
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3462
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14875
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4178
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50880
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1641
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.416e0

MQ
type: SiteQuality
SIO_000300: 6.064e1

QD
type: SiteQuality
SIO_000300: 1.628e1

FS
type: SiteQuality
SIO_000300: 3.764e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 4.589654e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361187
ensembl transcript: ENST00000372115
gene symbol: MUTYH
hgvsc: ENST00000372115.3:c.1580C>T
hgvsp: ENSP00000361187.3:p.Ala527Val
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000437093
ensembl transcript: ENST00000529984
gene symbol: MUTYH
hgvsc: ENST00000529984.1:c.623C>T
hgvsp: ENSP00000437093.1:p.Ala208Val
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1571C>T
hgvsp: ENSP00000409718.1:p.Ala524Val
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 14876
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4184
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2632
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3462
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4648
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1071
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5817
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50880
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.344e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

FS
type: SiteQuality
SIO_000300: 3.595e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 4.589699e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*862T>C
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*276T>C
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1566T>C
hgvsp: ENST00000448481.1:c.1566T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 14876
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2631
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1982
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3462
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4187
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50879
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5819
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.947e0

DP
type: SiteQuality
SIO_000300: 4.589674e6

MQRankSum
type: SiteQuality
SIO_000300: -1.271e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -6.623e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.08e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361170
ensembl transcript: ENST00000372098
gene symbol: MUTYH
hgvsc: ENST00000372098.3:c.1606A>G
hgvsp: ENSP00000361170.3:p.Thr536Ala
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.*23A>G
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*274A>G
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1584
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2962
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14875
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1982
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1010
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2631
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4185
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5819
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50879
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 4.589903e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.193e0

QD
type: SiteQuality
SIO_000300: 1.511e1

FS
type: SiteQuality
SIO_000300: 2.529e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000347685
ensembl transcript: ENST00000355498
gene symbol: MUTYH
hgvsc: ENST00000355498.2:c.1529C>T
hgvsp: ENSP00000347685.2:p.Ser510Phe
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*858C>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433130
ensembl transcript: ENST00000528013
gene symbol: MUTYH
hgvsc: ENST00000528013.2:c.1571C>T
hgvsp: ENSP00000433130.2:p.Ser524Phe
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1582
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4187
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1982
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2632
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14874
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2962
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50879
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 4.589871e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 3.611e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.693e0

VQSLOD
type: SiteQuality
SIO_000300: -9.573e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

QD
type: SiteQuality
SIO_000300: 6.61e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432528
ensembl transcript: ENST00000529892
gene symbol: MUTYH
hgvsc: ENST00000529892.1:c.600A>G
hgvsp: ENSP00000432528.1:p.Ile201Val
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.*17A>G
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361187
ensembl transcript: ENST00000372115
gene symbol: MUTYH
hgvsc: ENST00000372115.3:c.1567A>G
hgvsp: ENSP00000361187.3:p.Ile523Val
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 1982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4187
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4537
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2962
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14875
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2632
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1010
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5813
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50879
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.196e0

FS
type: SiteQuality
SIO_000300: 1.5624e1

QD
type: SiteQuality
SIO_000300: 1.429e1

DP
type: SiteQuality
SIO_000300: 4.589849e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433076
ensembl transcript: ENST00000528332
gene symbol: MUTYH
hgvsc: ENST00000528332.2:c.651C>T
hgvsp: ENST00000528332.2:c.651C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*853C>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436597
ensembl transcript: ENST00000481571
gene symbol: MUTYH
hgvsc: ENST00000481571.1:c.*1337C>T
variant of: http://identifiers.org/hgnc/7527

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

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4187
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14875
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4537
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2633
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5812
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50879
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 4.589772e6

FS
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.211e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.071e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433130
ensembl transcript: ENST00000528013
gene symbol: MUTYH
hgvsc: ENST00000528013.2:c.1564C>T
hgvsp: ENSP00000433130.2:p.His522Tyr
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.*14C>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*851C>T
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4537
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4299
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2635
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1577
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1318
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4186
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14875
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50878
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.887e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.589796e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.*9G>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433076
ensembl transcript: ENST00000528332
gene symbol: MUTYH
hgvsc: ENST00000528332.2:c.644G>A
hgvsp: ENSP00000433076.2:p.Arg215Gln
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*846G>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1517G>A
hgvsp: ENSP00000361176.1:p.Arg506Gln
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*379G>A
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 1973
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4183
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1006
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3871
bin: 8.75e1
variant carriers: 8

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4525
bin: 7.75e1
variant carriers: 8

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4464
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2634
bin: 3.25e1
variant carriers: 3

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

GenotypeDepth
all individuals: 3738
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1064
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15077
bin: 9.75e1
variant carriers: 340

GenotypeDepth
all individuals: 1548
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4286
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 4621
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1312
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2947
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3451
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50921
bin: 9.75e1
variant carriers: 390

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

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 379
allele frequency: 3.642829680891965e-2
allele num: 10404
num of homozygotes: 7

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 4.628659e6

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361187
ensembl transcript: ENST00000372115
gene symbol: MUTYH
hgvsc: ENST00000372115.3:c.1559G>C
hgvsp: ENSP00000361187.3:p.Arg520Pro
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*260G>C
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436597
ensembl transcript: ENST00000481571
gene symbol: MUTYH
hgvsc: ENST00000481571.1:c.*1330G>C
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000132781
ensembl transcript: ENST00000482094
gene symbol: MUTYH
hgvsc: ENST00000482094.1:n.838G>C
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*846G>C
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2947
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1548
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3871
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2634
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4621
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4286
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4183
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4525
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4464
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3451
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1064
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3738
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1973
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15077
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50921
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

DP
type: SiteQuality
SIO_000300: 4.628659e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.61e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.*8C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1549C>A
hgvsp: ENST00000448481.1:c.1549C>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000132781
ensembl transcript: ENST00000482094
gene symbol: MUTYH
hgvsc: ENST00000482094.1:n.837C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*845C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1516C>A
hgvsp: ENST00000372104.1:c.1516C>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

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

GenotypeDepth
all individuals: 1315
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4307
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2654
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4233
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14823
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1555
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4544
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3759
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2965
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3465
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4486
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1661
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5842
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50829
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 4.584441e6

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 1.799e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1545C>A
hgvsp: ENSP00000409718.1:p.Phe515Leu
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.*4C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433130
ensembl transcript: ENST00000528013
gene symbol: MUTYH
hgvsc: ENST00000528013.2:c.1554C>A
hgvsp: ENSP00000433130.2:p.Phe518Leu
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2965
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2654
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4306
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3759
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4486
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4544
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14824
bin: 9.75e1
variant carriers: 4

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

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

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

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50828
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

DP
type: SiteQuality
SIO_000300: 4.584774e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433843
ensembl transcript: ENST00000475516
gene symbol: MUTYH
hgvsc: ENST00000475516.1:c.*1317G>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1504G>T
hgvsp: ENSP00000361176.1:p.Asp502Tyr
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1537G>T
hgvsp: ENSP00000409718.1:p.Asp513Tyr
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4308
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1981
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3759
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3884
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1546
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14823
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 4486
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4545
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2966
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5836
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50828
bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.19871737241152e-4
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.585587e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.219e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.825e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.185G>C
hgvsp: ENSP00000431292.1:p.Gly62Ala
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.589G>C
hgvsp: ENSP00000432330.1:p.Asp197His
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*366G>C
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4308
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1546
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2966
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3759
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3884
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14823
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4545
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4647
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4486
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50828
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 4.585587e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.825e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*830C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000132781
ensembl transcript: ENST00000482094
gene symbol: MUTYH
hgvsc: ENST00000482094.1:n.822C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1501C>A
hgvsp: ENSP00000361176.1:p.Leu501Met
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: true
clinical significance: uncertain_significance&not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361170
ensembl transcript: ENST00000372098
gene symbol: MUTYH
hgvsc: ENST00000372098.3:c.1576C>A
hgvsp: ENSP00000361170.3:p.Leu526Met
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*363C>A
variant of: http://identifiers.org/hgnc/7527

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

GenotypeDepth
all individuals: 4629
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4512
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3745
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1544
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1310
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1004
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2655
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2960
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4466
bin: 6.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 15017
bin: 9.75e1
variant carriers: 291

GenotypeDepth
all individuals: 4277
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3437
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1973
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3854
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50829
bin: 9.75e1
variant carriers: 295

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 293
allele frequency: 2.530661599585421e-2
allele num: 11578
num of homozygotes: 7

African
type: Population
allele count: 7
allele frequency: 6.729475100942127e-4
allele num: 10402
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

DP
type: SiteQuality
SIO_000300: 4.623361e6

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.484e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*347C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*814C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1518C>A
hgvsp: ENST00000448481.1:c.1518C>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1537
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4503
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4551
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3774
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2984
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4298
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4233
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1323
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14757
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50819
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 4.58016e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.008e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1517G>A
hgvsp: ENSP00000409718.1:p.Arg506His
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432528
ensembl transcript: ENST00000529892
gene symbol: MUTYH
hgvsc: ENST00000529892.1:c.559G>A
hgvsp: ENSP00000432528.1:p.Arg187His
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000408176
ensembl transcript: ENST00000450313
gene symbol: MUTYH
hgvsc: ENST00000450313.1:c.1568G>A
hgvsp: ENSP00000408176.1:p.Arg523His
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 3774
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14757
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1323
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2984
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4551
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4233
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2655
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4297
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4503
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5831
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50818
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.174e1

FS
type: SiteQuality
SIO_000300: 2.377e0

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.424e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 4.580152e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.568C>T
hgvsp: ENSP00000432330.1:p.Arg190Cys
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000437093
ensembl transcript: ENST00000529984
gene symbol: MUTYH
hgvsc: ENST00000529984.1:c.568C>T
hgvsp: ENSP00000437093.1:p.Arg190Cys
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*812C>T
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4502
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3774
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2984
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4551
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3869
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2657
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4232
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14759
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1323
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5831
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50819
bin: 9.75e1
variant carriers: 6

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: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990919171636647e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.317e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 4.580511e6

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436597
ensembl transcript: ENST00000481571
gene symbol: MUTYH
hgvsc: ENST00000481571.1:c.*1291A>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*807A>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*340A>T
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4502
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1323
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1079
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2985
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3774
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4229
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2650
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4551
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14757
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5838
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.580106e6

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.096e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 5.997e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

QD
type: SiteQuality
SIO_000300: 1.374e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.039e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.159A>G
hgvsp: ENST00000531105.1:c.159A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.563A>G
hgvsp: ENSP00000432330.1:p.Lys188Arg
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1478A>G
hgvsp: ENSP00000361176.1:p.Lys493Arg
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 3774
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2985
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4229
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14757
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4551
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1079
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2650
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4502
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1323
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1655
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 10402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.039e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 4.580106e6

MQ
type: SiteQuality
SIO_000300: 5.997e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

FS
type: SiteQuality
SIO_000300: 1.096e0

QD
type: SiteQuality
SIO_000300: 1.374e1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436597
ensembl transcript: ENST00000481571
gene symbol: MUTYH
hgvsc: ENST00000481571.1:c.*1285G>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433076
ensembl transcript: ENST00000528332
gene symbol: MUTYH
hgvsc: ENST00000528332.2:c.599G>A
hgvsp: ENSP00000433076.2:p.Arg200Gln
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1505G>A
hgvsp: ENSP00000409718.1:p.Arg502Gln
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000407590
ensembl transcript: ENST00000456914
gene symbol: MUTYH
hgvsc: ENST00000456914.2:c.1472G>A
hgvsp: ENSP00000407590.2:p.Arg491Gln
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1472G>A
hgvsp: ENSP00000361176.1:p.Arg491Gln
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4501
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3773
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14758
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1322
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4226
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2985
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2652
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1077
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1005
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4552
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3869
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50816
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5827
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

DP
type: SiteQuality
SIO_000300: 4.580232e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000407590
ensembl transcript: ENST00000456914
gene symbol: MUTYH
hgvsc: ENST00000456914.2:c.1471C>A
hgvsp: ENST00000456914.2:c.1471C>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*214C>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.556C>A
hgvsp: ENST00000488731.2:c.556C>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 3775
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1322
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2653
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1531
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4552
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2984
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4226
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4501
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14756
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1656
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50815
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 510
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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: 10400
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.912e0

DP
type: SiteQuality
SIO_000300: 4.579603e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.337e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000437093
ensembl transcript: ENST00000529984
gene symbol: MUTYH
hgvsc: ENST00000529984.1:c.552C>G
hgvsp: ENSP00000437093.1:p.Cys184Trp
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.148C>G
hgvsp: ENSP00000431292.1:p.Gln50Glu
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433076
ensembl transcript: ENST00000528332
gene symbol: MUTYH
hgvsc: ENST00000528332.2:c.594C>G
hgvsp: ENSP00000433076.2:p.Cys198Trp
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 2984
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1322
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3867
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2652
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4224
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4552
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14756
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3775
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4501
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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: 10396
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.231e1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 4.873e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 4.579391e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.35e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*795G>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.147G>A
hgvsp: ENST00000531105.1:c.147G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*328G>A
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4552
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1322
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3775
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2984
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14756
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4226
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3447
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2652
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4501
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3867
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5809
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 6.75e1
variant carriers: 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: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.829e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e-2

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.693e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.22e-1

DP
type: SiteQuality
SIO_000300: 4.579398e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361176
ensembl transcript: ENST00000372104
gene symbol: MUTYH
hgvsc: ENST00000372104.1:c.1464G>A
hgvsp: ENST00000372104.1:c.1464G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433076
ensembl transcript: ENST00000528332
gene symbol: MUTYH
hgvsc: ENST00000528332.2:c.591G>A
hgvsp: ENST00000528332.2:c.591G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000408176
ensembl transcript: ENST00000450313
gene symbol: MUTYH
hgvsc: ENST00000450313.1:c.1548G>A
hgvsp: ENST00000450313.1:c.1548G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 1504
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3775
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2651
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4552
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14761
bin: 9.75e1
variant carriers: 13

GenotypeDepth
all individuals: 1987
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3446
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3865
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4228
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4293
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2984
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1323
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4502
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4675
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50814
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5794
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498800959232614e-4
allele num: 66720
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: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 4.58129e6

QD
type: SiteQuality
SIO_000300: 1.165e1

FS
type: SiteQuality
SIO_000300: 1.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433130
ensembl transcript: ENST00000528013
gene symbol: MUTYH
hgvsc: ENST00000528013.2:c.1502C>T
hgvsp: ENSP00000433130.2:p.Ser501Phe
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.545C>T
hgvsp: ENSP00000432330.1:p.Ser182Phe
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361187
ensembl transcript: ENST00000372115
gene symbol: MUTYH
hgvsc: ENST00000372115.3:c.1502C>T
hgvsp: ENSP00000361187.3:p.Ser501Phe
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000409718
ensembl transcript: ENST00000448481
gene symbol: MUTYH
hgvsc: ENST00000448481.1:c.1493C>T
hgvsp: ENSP00000409718.1:p.Ser498Phe
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
clinical significance: not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436597
ensembl transcript: ENST00000481571
gene symbol: MUTYH
hgvsc: ENST00000481571.1:c.*1273C>T
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4637
bin: 7.25e1
variant carriers: 12

GenotypeDepth
all individuals: 4464
bin: 6.75e1
variant carriers: 12

GenotypeDepth
all individuals: 4499
bin: 7.75e1
variant carriers: 12

GenotypeDepth
all individuals: 4219
bin: 2.75e1
variant carriers: 4

GenotypeDepth
all individuals: 3731
bin: 6.25e1
variant carriers: 6

GenotypeDepth
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2643
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 4215
bin: 8.25e1
variant carriers: 12

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

GenotypeDepth
all individuals: 1081
bin: 3.75e1
variant carriers: 9

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 999
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 2965
bin: 5.75e1
variant carriers: 9

GenotypeDepth
all individuals: 1972
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15177
bin: 9.75e1
variant carriers: 834

GenotypeDepth
all individuals: 1462
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1315
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 3812
bin: 8.75e1
variant carriers: 9

GenotypeDepth
all individuals: 3393
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50845
bin: 9.75e1
variant carriers: 950

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

GenotypeQuality
all individuals: 5761
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 71
allele frequency: 6.135499481507086e-3
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 81
allele frequency: 7.80196493931805e-3
allele num: 10382
num of homozygotes: 1

Other
type: Population
allele count: 8
allele frequency: 8.81057268722467e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 34
allele frequency: 5.140610825521621e-3
allele num: 6614
num of homozygotes: 1

South Asian
type: Population
allele count: 49
allele frequency: 2.968977217644208e-3
allele num: 16504
num of homozygotes: 0

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: 713
allele frequency: 1.068805276570229e-2
allele num: 66710
num of homozygotes: 4

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

DP
type: SiteQuality
SIO_000300: 4.69576e6

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.325e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000435889
ensembl transcript: ENST00000467459
gene symbol: MUTYH
hgvsc: ENST00000467459.1:c.*315G>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*782G>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000408176
ensembl transcript: ENST00000450313
gene symbol: MUTYH
hgvsc: ENST00000450313.1:c.1537G>T
hgvsp: ENSP00000408176.1:p.Val513Leu
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1329
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2012
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4272
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1092
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14570
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1455
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3789
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2676
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3015
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3851
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5832
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

DP
type: SiteQuality
SIO_000300: 4.559706e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.337e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 1.144e0

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*189G>A
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.531G>A
hgvsp: ENST00000488731.2:c.531G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433130
ensembl transcript: ENST00000528013
gene symbol: MUTYH
hgvsc: ENST00000528013.2:c.1488G>A
hgvsp: ENST00000528013.2:c.1488G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 2011
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14570
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3015
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1398
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1075
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3789
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4231
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3851
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2642
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50675
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.384e0

DP
type: SiteQuality
SIO_000300: 4.557353e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.24e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000433843
ensembl transcript: ENST00000475516
gene symbol: MUTYH
hgvsc: ENST00000475516.1:c.*1254A>C
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*770A>C
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*184A>C
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 2009
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3789
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2594
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1397
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3851
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1001
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1055
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4159
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14570
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3015
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50675
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 1.851e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 4.554263e6

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e0

QD
type: SiteQuality
SIO_000300: 1.371e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000436430
ensembl transcript: ENST00000533178
gene symbol: MUTYH
hgvsc: ENST00000533178.1:c.*764-3C>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl transcript: ENST00000482094
gene symbol: MUTYH
hgvsc: ENST00000482094.1:n.756-3C>T
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361172
ensembl transcript: ENST00000372100
gene symbol: MUTYH
hgvsc: ENST00000372100.5:c.1468-3C>T
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1017
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4112
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14570
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1322
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3851
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2478
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 994
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3014
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50669
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
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: 16480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.5504e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 4.393e0

QD
type: SiteQuality
SIO_000300: 1.202e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.708e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.728e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000346354
ensembl transcript: ENST00000354383
gene symbol: MUTYH
hgvsc: ENST00000354383.6:c.1438-6dupT
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361187
ensembl transcript: ENST00000372115
gene symbol: MUTYH
hgvsc: ENST00000372115.3:c.1477-6dupT
variant of: http://identifiers.org/hgnc/7527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*178-6dupT
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 169
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3852
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1417
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1016
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4083
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 988
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2447
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1321
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3014
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50666
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
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: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.082e0

DP
type: SiteQuality
SIO_000300: 4.548983e6

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432330
ensembl transcript: ENST00000488731
gene symbol: MUTYH
hgvsc: ENST00000488731.2:c.520-9T>C
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 988
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4044
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3014
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1004
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3852
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2425
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1358
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50666
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 413
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5300
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 3.006e0

DP
type: SiteQuality
SIO_000300: 4.54691e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000407590
ensembl transcript: ENST00000456914
gene symbol: MUTYH
hgvsc: ENST00000456914.2:c.1435-20C>G
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 883
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14568
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 969
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3014
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3853
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3705
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2008
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2222
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1191
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50661
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.525e0

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 4.535652e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000432528
ensembl transcript: ENST00000529892
gene symbol: MUTYH
hgvsc: ENST00000529892.1:c.510-21C>T
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 2008
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 967
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14570
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2219
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3787
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3707
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3015
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50661
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.282896263634254e-4
allele num: 8618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.468e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 4.53574e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.671e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000407590
ensembl transcript: ENST00000456914
gene symbol: MUTYH
hgvsc: ENST00000456914.2:c.1435-23T>C
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 1314
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3786
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4518
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14566
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 960
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2136
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3612
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1189
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3015
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2008
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3854
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4700
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50661
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 665
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
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: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.601e0

QD
type: SiteQuality
SIO_000300: 1.293e1

FS
type: SiteQuality
SIO_000300: 7.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 4.531753e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000437093
ensembl transcript: ENST00000529984
gene symbol: MUTYH
hgvsc: ENST00000529984.1:c.520-26G>C
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4518
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4699
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1054
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3534
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14565
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2041
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3854
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1195
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1310
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3786
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3015
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50655
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 5.187e0

MQ
type: SiteQuality
SIO_000300: 5.792e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.762e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e0

DP
type: SiteQuality
SIO_000300: 4.528639e6

QD
type: SiteQuality
SIO_000300: 1.405e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431292
ensembl transcript: ENST00000531105
gene symbol: MUTYH
hgvsc: ENST00000531105.1:c.116-31A>G
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 3015
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 942
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 907
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1199
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14565
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3290
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 998
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4699
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2008
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3786
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4518
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3854
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1898
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3967
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 3.522e0

VQSLOD
type: SiteQuality
SIO_000300: -8.873e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.488e0

DP
type: SiteQuality
SIO_000300: 4.522024e6

QD
type: SiteQuality
SIO_000300: 8.91e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361172
ensembl transcript: ENST00000372100
gene symbol: MUTYH
hgvsc: ENST00000372100.5:c.1468-37C>G
variant of: http://identifiers.org/hgnc/7527

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

GenotypeDepth
all individuals: 4545
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1751
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1588
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 934
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2742
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3014
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1307
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3785
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4518
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14566
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 858
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3853
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50648
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.025185274447189e-5
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.455e1

DP
type: SiteQuality
SIO_000300: 4.509934e6

FS
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.434e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000431264
ensembl transcript: ENST00000485271
gene symbol: MUTYH
hgvsc: ENST00000485271.1:c.*178-40C>G
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 932
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3785
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4700
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3853
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1306
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1267
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1513
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1321
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4545
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3014
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14565
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2634
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50649
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
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: 8602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.215e1

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.816e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.098e0

DP
type: SiteQuality
SIO_000300: 4.507674e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000437093
ensembl transcript: ENST00000529984
gene symbol: MUTYH
hgvsc: ENST00000529984.1:c.520-44C>G
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 2007
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2003
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1306
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4699
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4518
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2254
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 925
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1748
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3013
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4545
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3785
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1265
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3853
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1317
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14566
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50645
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.501912e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.357e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.728e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000132781
ensembl protein: ENSP00000361172
ensembl transcript: ENST00000372100
gene symbol: MUTYH
hgvsc: ENST00000372100.5:c.1468-48C>T
variant of: http://identifiers.org/hgnc/7527

GenotypeDepth
all individuals: 3430
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2208
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1265
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 810
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1960
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 925
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1980
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4519
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3013
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4545
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3785
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1305
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3853
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14565
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 4.75e1
variant carriers: 0