12-49433740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433740
    reference: chr 12
allele count: 1
allele frequency: 8.43668269636379e-6
allele num: 118530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7813T>C
  hgvsp: ENSP00000301067.7:p.Tyr2605His
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr2605His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6494
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-49433742-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433742
    reference: chr 12
allele count: 2
allele frequency: 1.689303331306169e-5
allele num: 118392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7811G>T
  hgvsp: ENSP00000301067.7:p.Ser2604Ile
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24960
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
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  variant carriers: 0
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
  all individuals: 1355
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
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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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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser2604Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8546
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16384
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-49433754-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433754
    reference: chr 12
allele count: 2
allele frequency: 1.694972710939354e-5
allele num: 117996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7799C>A
  hgvsp: ENSP00000301067.7:p.Ser2600Tyr
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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
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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
  all individuals: 144
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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: 231
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  variant carriers: 0
hgvs: p.Ser2600Tyr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65046
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 864
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-49433758-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433758
    reference: chr 12
allele count: 3
allele frequency: 2.548463276644184e-5
allele num: 117718
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7795G>T
  hgvsp: ENSP00000301067.7:p.Gly2599Trp
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 33431
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  variant carriers: 0
hgvs: p.Gly2599Trp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8516
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 860
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-49433759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433759
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433759
    reference: chr 12
allele count: 9
allele frequency: 7.649678713494034e-5
allele num: 117652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7794C>T
  hgvsp: ENST00000301067.7:c.7794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19870
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.75e1
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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
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genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 34402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 6183
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2598Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9426
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.114294612270321e-4
  allele num: 6422
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-49433766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433766
    reference: chr 12
allele count: 2
allele frequency: 1.702678312986327e-5
allele num: 117462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7787C>T
  hgvsp: ENSP00000301067.7:p.Pro2596Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 18484
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
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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: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 214
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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: 2093
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2596Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6380
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.088898498795329e-5
  allele num: 64748
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-49433773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433773
    reference: chr 12
allele count: 2
allele frequency: 1.705727834066796e-5
allele num: 117252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7780C>T
  hgvsp: ENST00000301067.7:c.7780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 236
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  variant carriers: 0
hgvs: p.Leu2594Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16314
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6360
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

12-49433784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433784
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433784
    reference: chr 12
allele count: 4
allele frequency: 3.416642465449203e-5
allele num: 117074
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7769C>T
  hgvsp: ENSP00000301067.7:p.Ser2590Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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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
  all individuals: 488
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  variant carriers: 4
hgvs: p.Ser2590Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.840942562592047e-4
  allele num: 16296
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8482
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-49433788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433788
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433788
    reference: chr 12
allele count: 2
allele frequency: 1.707212974818609e-5
allele num: 117150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7765C>T
  hgvsp: ENSP00000301067.7:p.Pro2589Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2589Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8498
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6288
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

12-49433792-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433792
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433792
    reference: chr 12
allele count: 1
allele frequency: 8.532860044029558e-6
allele num: 117194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7761C>G
  hgvsp: ENSP00000301067.7:p.Phe2587Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23379
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe2587Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11170
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8494
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/12-49433798-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433798
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433798
    reference: chr 12
allele count: 1
allele frequency: 8.536502082906508e-6
allele num: 117144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7755G>T
  hgvsp: ENST00000301067.7:c.7755G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly2585Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.546025169289756e-5
  allele num: 64682
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16294
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-49433801-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433801
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433801
    reference: chr 12
allele count: 1
allele frequency: 8.558126797206627e-6
allele num: 116848
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7752A>C
  hgvsp: ENST00000301067.7:c.7752A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
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genotype quality: GenotypeQuality
  all individuals: 1129
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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: 239
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 488
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31080
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr2584Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6246
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16294
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-49433822-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433822
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433822
    reference: chr 12
allele count: 2
allele frequency: 1.705524192860676e-5
allele num: 117266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7731C>G
  hgvsp: ENSP00000301067.7:p.Ser2577Arg
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6419
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser2577Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 860
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9384
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

12-49433827-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433827
    reference: chr 12
allele count: 3
allele frequency: 2.556106538520525e-5
allele num: 117366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7726C>G
  hgvsp: ENSP00000301067.7:p.Gln2576Glu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln2576Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6174
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.083469519903795e-5
  allele num: 64862
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-49433829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433829
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433829
    reference: chr 12
allele count: 2
allele frequency: 1.703171304969854e-5
allele num: 117428
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7724C>T
  hgvsp: ENSP00000301067.7:p.Pro2575Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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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: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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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: 741
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2575Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64896
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11202
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49433836-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433836
    reference: chr 12
allele count: 3
allele frequency: 2.549892904498011e-5
allele num: 117652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7717G>C
  hgvsp: ENSP00000301067.7:p.Gly2573Arg
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27202
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 677
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  variant carriers: 0
hgvs: p.Gly2573Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.222942399412988e-4
  allele num: 16354
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.53727901614143e-5
  allele num: 65050
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-49433837-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433837
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433837
    reference: chr 12
allele count: 2
allele frequency: 1.699986400108799e-5
allele num: 117648
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7716G>C
  hgvsp: ENSP00000301067.7:p.Leu2572Phe
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 3.75e1
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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
  all individuals: 498
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  variant carriers: 2
hgvs: p.Leu2572Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9440
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8548
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-49433841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433841
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433841
    reference: chr 12
allele count: 1
allele frequency: 8.489108473828079e-6
allele num: 117798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7712C>T
  hgvsp: ENSP00000301067.7:p.Thr2571Ile
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19700
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr2571Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.535437906891045e-5
  allele num: 65128
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16364
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-49433848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433848
    reference: chr 12
allele count: 86
allele frequency: 7.298402837890591e-4
allele num: 117834
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7705G>A
  hgvsp: ENSP00000301067.7:p.Gly2569Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20143
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27313
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly2569Ser
num of homozygotes: 1
population: Other
  type: Population
  allele count: 2
  allele frequency: 2.298850574712644e-3
  allele num: 870
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.535013661621589e-5
  allele num: 65146
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-49433849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433849
    reference: chr 12
allele count: 1
allele frequency: 8.4870911343846e-6
allele num: 117826
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7704C>T
  hgvsp: ENST00000301067.7:c.7704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7119
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 295
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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
  all individuals: 39898
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 398
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 304
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genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro2568Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11282
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9460
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-49433857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433857
    reference: chr 12
allele count: 5
allele frequency: 4.231980228188374e-5
allele num: 118148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7696T>C
  hgvsp: ENSP00000301067.7:p.Phe2566Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 272
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genotype quality: GenotypeQuality
  all individuals: 40584
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe2566Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.061380682687892e-5
  allele num: 65330
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16394
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-49433872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433872
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433872
    reference: chr 12
allele count: 1
allele frequency: 8.462814393554721e-6
allele num: 118164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7681G>A
  hgvsp: ENSP00000301067.7:p.Gly2561Arg
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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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  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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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly2561Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.530643482520051e-5
  allele num: 65332
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9500
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-49433875-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433875
    reference: chr 12
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7678C>G
  hgvsp: ENSP00000301067.7:p.His2560Asp
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39516
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His2560Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9500
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11358
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-49433877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433877
    reference: chr 12
allele count: 1
allele frequency: 8.457374830852504e-6
allele num: 118240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7676C>T
  hgvsp: ENSP00000301067.7:p.Pro2559Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro2559Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8580
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6120
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-49433877-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433877
    reference: chr 12
allele count: 2
allele frequency: 1.691474966170501e-5
allele num: 118240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7676C>G
  hgvsp: ENSP00000301067.7:p.Pro2559Arg
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39514
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro2559Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9498
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65386
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-49433882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433882
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433882
    reference: chr 12
allele count: 21
allele frequency: 1.777461784571632e-4
allele num: 118146
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7671G>A
  hgvsp: ENST00000301067.7:c.7671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26269
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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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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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39510
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7367
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro2557Pro
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.804366966015144e-5
  allele num: 11358
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65352
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-49433883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433883
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433883
    reference: chr 12
allele count: 1004
allele frequency: 8.494077834179357e-3
allele num: 118200
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7670C>T
  hgvsp: ENSP00000301067.7:p.Pro2557Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 25964
  bin: 2.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39052
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 9.75e1
  variant carriers: 977
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7287
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Pro2557Leu
num of homozygotes: 11
population: Other
  type: Population
  allele count: 13
  allele frequency: 1.511627906976744e-2
  allele num: 860
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 274
  allele frequency: 1.667884100316533e-2
  allele num: 16428
  num of homozygotes: 5
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-49433885-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433885
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433885
    reference: chr 12
allele count: 1
allele frequency: 8.450228156160216e-6
allele num: 118340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7668C>G
  hgvsp: ENST00000301067.7:c.7668C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 40043
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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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
  all individuals: 677
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2399
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genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu2556Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11356
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6128
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-49433890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433890
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433890
    reference: chr 12
allele count: 2
allele frequency: 1.690074194257128e-5
allele num: 118338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7663G>A
  hgvsp: ENSP00000301067.7:p.Gly2555Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21489
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly2555Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.056141315974451e-5
  allele num: 65442
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 870
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-49433897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433897
    reference: chr 12
allele count: 1
allele frequency: 8.447658309116713e-6
allele num: 118376
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7656T>C
  hgvsp: ENST00000301067.7:c.7656T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25690
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 350
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  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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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 276
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro2552Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9492
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6118
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-49433905-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433905
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433905
    reference: chr 12
allele count: 18
allele frequency: 1.520938249907054e-4
allele num: 118348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7648C>A
  hgvsp: ENSP00000301067.7:p.Pro2550Thr
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25121
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21786
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2550Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6130
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11372
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

12-49433907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433907
    reference: chr 12
allele count: 1
allele frequency: 8.447372867038351e-6
allele num: 118380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7646C>T
  hgvsp: ENSP00000301067.7:p.Pro2549Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro2549Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11374
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 866
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-49433908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433908
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433908
    reference: chr 12
allele count: 3
allele frequency: 2.534425952521754e-5
allele num: 118370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7645C>T
  hgvsp: ENSP00000301067.7:p.Pro2549Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro2549Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9502
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11370
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

12-49433911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433911
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433911
    reference: chr 12
allele count: 2
allele frequency: 1.689617301681169e-5
allele num: 118370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7642A>G
  hgvsp: ENSP00000301067.7:p.Lys2548Glu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 740
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 38920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys2548Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65458
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16440
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-49433916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433916
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433916
    reference: chr 12
allele count: 1
allele frequency: 8.449228585430151e-6
allele num: 118354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7637C>T
  hgvsp: ENSP00000301067.7:p.Ser2546Phe
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2546Phe
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 874
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11390
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-49433920-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433920
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433920
    reference: chr 12
allele count: 1
allele frequency: 8.451656524678837e-6
allele num: 118320
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7633C>G
  hgvsp: ENSP00000301067.7:p.Pro2545Ala
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38584
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro2545Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16438
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6142
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

12-49433924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433924
    reference: chr 12
allele count: 6
allele frequency: 5.073480915255957e-5
allele num: 118262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7629G>A
  hgvsp: ENST00000301067.7:c.7629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24944
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38626
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly2543Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65338
  num of homozygotes: 0
population: African
  type: Population
  allele count: 6
  allele frequency: 6.313131313131314e-4
  allele num: 9504
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-49433925-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433925
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433925
    reference: chr 12
allele count: 2
allele frequency: 1.691246110133947e-5
allele num: 118256
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7628G>T
  hgvsp: ENSP00000301067.7:p.Gly2543Val
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly2543Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16446
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.051967178624027e-4
  allele num: 9506
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-49433936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433936
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433936
    reference: chr 12
allele count: 1
allele frequency: 8.461811843151855e-6
allele num: 118178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7617T>C
  hgvsp: ENST00000301067.7:c.7617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21924
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro2539Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9482
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65288
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-49433939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433939
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433939
    reference: chr 12
allele count: 2
allele frequency: 1.692333728211203e-5
allele num: 118180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7614C>T
  hgvsp: ENST00000301067.7:c.7614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe2538Phe
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 866
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8566
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

12-49433943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433943
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433943
    reference: chr 12
allele count: 2
allele frequency: 1.693107359937694e-5
allele num: 118126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7610C>T
  hgvsp: ENSP00000301067.7:p.Thr2537Ile
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2537Ile
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: 11410
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-49433946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433946
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433946
    reference: chr 12
allele count: 33
allele frequency: 2.795236239814329e-4
allele num: 118058
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7607T>C
  hgvsp: ENSP00000301067.7:p.Phe2536Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24799
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21797
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe2536Ser
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 21
  allele frequency: 3.403565640194489e-3
  allele num: 6170
  num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9438
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-49433949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433949
    reference: chr 12
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7604G>A
  hgvsp: ENSP00000301067.7:p.Arg2535His
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24622
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7740
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38211
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg2535His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 860
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.168224299065421e-4
  allele num: 8560
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

12-49433950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433950
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433950
    reference: chr 12
allele count: 13
allele frequency: 1.103134599392427e-4
allele num: 117846
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7603C>T
  hgvsp: ENSP00000301067.7:p.Arg2535Cys
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24500
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21714
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg2535Cys
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8558
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11398
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-49433958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433958
    reference: chr 12
allele count: 3
allele frequency: 2.547424553776132e-5
allele num: 117766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7595C>T
  hgvsp: ENSP00000301067.7:p.Ser2532Phe
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2532Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.617231507987811e-5
  allele num: 64974
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9386
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49433962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433962
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433962
    reference: chr 12
allele count: 1
allele frequency: 8.504992430556738e-6
allele num: 117578
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7591C>T
  hgvsp: ENSP00000301067.7:p.Pro2531Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro2531Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8548
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64850
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

12-49433964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433964
    reference: chr 12
allele count: 10
allele frequency: 8.506005239699228e-5
allele num: 117564
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7589C>T
  hgvsp: ENSP00000301067.7:p.Thr2530Ile
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21484
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2530Ile
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 860
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 10
  allele frequency: 8.765778401122019e-4
  allele num: 11408
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-49433972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433972
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433972
    reference: chr 12
allele count: 5
allele frequency: 4.269927752822422e-5
allele num: 117098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7581T>C
  hgvsp: ENST00000301067.7:c.7581T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23544
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Phe2527Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4
  allele frequency: 2.45188181929631e-4
  allele num: 16314
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-49433975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433975
    reference: chr 12
allele count: 2
allele frequency: 1.710922529427867e-5
allele num: 116896
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7578A>G
  hgvsp: ENST00000301067.7:c.7578A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7744
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2526Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6182
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-49433981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433981
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433981
    reference: chr 12
allele count: 19
allele frequency: 1.632442649712175e-4
allele num: 116390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7572G>A
  hgvsp: ENST00000301067.7:c.7572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23070
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21626
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7737
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 436
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36320
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr2524Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6190
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 14
  allele frequency: 1.228501228501228e-3
  allele num: 11396
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-49433982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433982
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433982
    reference: chr 12
allele count: 7
allele frequency: 6.014365742172732e-5
allele num: 116388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7571C>T
  hgvsp: ENSP00000301067.7:p.Thr2524Met
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21630
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 331
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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: 371
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 990
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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: 577
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Thr2524Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 6
  allele frequency: 9.368266558411141e-5
  allele num: 64046
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 848
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-49433983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433983
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433983
    reference: chr 12
allele count: 2
allele frequency: 1.717740827263983e-5
allele num: 116432
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7570A>G
  hgvsp: ENSP00000301067.7:p.Thr2524Ala
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 7.25e1
  variant carriers: 0
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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36801
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 583
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr2524Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64062
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6206
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-49433994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433994
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433994
    reference: chr 12
allele count: 4
allele frequency: 3.47131823309902e-5
allele num: 115230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7559G>A
  hgvsp: ENSP00000301067.7:p.Arg2520Gln
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22532
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
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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 quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 35794
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 7744
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg2520Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6210
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.317917614354308e-5
  allele num: 63312
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-49433995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433995
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433995
    reference: chr 12
allele count: 4
allele frequency: 3.476749239461104e-5
allele num: 115050
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7558C>T
  hgvsp: ENSP00000301067.7:p.Arg2520Trp
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 21441
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 3310
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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: 2011
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
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genotype quality: GenotypeQuality
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  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: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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: 778
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  variant carriers: 1
hgvs: p.Arg2520Trp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 840
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.163956210846042e-5
  allele num: 63212
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-49433998-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49433998
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49433998
    reference: chr 12
allele count: 1
allele frequency: 8.693233187287017e-6
allele num: 115032
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7555G>T
  hgvsp: ENSP00000301067.7:p.Val2519Phe
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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
  all individuals: 25
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
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genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1043
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Val2519Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11382
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 840
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-49434004-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434004
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434005
    reference: chr 12
allele count: 4
allele frequency: 3.489609687156491e-5
allele num: 114626
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7548dupC
  hgvsp: ENSP00000301067.7:p.Asn2517GlnfsTer138
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22004
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21205
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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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: 591
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hgvs: p.Asn2517GlnfsTer138
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.298322224775914e-4
  allele num: 8702
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6212
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-49434006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434006
    reference: chr 12
allele count: 1
allele frequency: 8.716875871687587e-6
allele num: 114720
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7547C>T
  hgvsp: ENSP00000301067.7:p.Pro2516Leu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
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genotype depth: GenotypeDepth
  all individuals: 398
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genotype depth: GenotypeDepth
  all individuals: 9
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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
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34512
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro2516Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6212
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.174536058256989e-4
  allele num: 8514
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49434008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434008
    reference: chr 12
allele count: 16
allele frequency: 1.395162274812089e-4
allele num: 114682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7545C>T
  hgvsp: ENST00000301067.7:c.7545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21037
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.75e1
  variant carriers: 16
hgvs: p.Pro2515Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.587200812646816e-5
  allele num: 63004
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 15
  allele frequency: 2.411575562700965e-3
  allele num: 6220
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-49434010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434010
    reference: chr 12
allele count: 3
allele frequency: 2.618577937608016e-5
allele num: 114566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7543C>T
  hgvsp: ENSP00000301067.7:p.Pro2515Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro2515Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.240639041437844e-5
  allele num: 16024
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11366
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-49434011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434011
    reference: chr 12
allele count: 1
allele frequency: 8.734539864439941e-6
allele num: 114488
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7542G>A
  hgvsp: ENST00000301067.7:c.7542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20969
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln2514Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8676
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11358
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-49434016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434016
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434016
    reference: chr 12
allele count: 1
allele frequency: 8.745539774714895e-6
allele num: 114344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7537G>A
  hgvsp: ENSP00000301067.7:p.Gly2513Arg
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly2513Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8506
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.155001155001155e-4
  allele num: 8658
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-49434032-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434032
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434032
    reference: chr 12
allele count: 1
allele frequency: 8.772699359592947e-6
allele num: 113990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7521T>A
  hgvsp: ENSP00000301067.7:p.His2507Gln
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His2507Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6234
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8504
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-49434037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434037
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434037
    reference: chr 12
allele count: 1
allele frequency: 8.79445597495339e-6
allele num: 113708
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7516C>T
  hgvsp: ENSP00000301067.7:p.Leu2506Phe
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 8002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu2506Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.798169980644026e-5
  allele num: 11366
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8604
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

12-49434038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434038
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434038
    reference: chr 12
allele count: 1
allele frequency: 8.796467338716771e-6
allele num: 113682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7515G>A
  hgvsp: ENST00000301067.7:c.7515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 496
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1000
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8002
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  variant carriers: 0
hgvs: p.Glu2505Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15602
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62552
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

12-49434043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434043
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434043
    reference: chr 12
allele count: 1
allele frequency: 8.829086542706291e-6
allele num: 113262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7510G>A
  hgvsp: ENSP00000301067.7:p.Gly2504Ser
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
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genotype quality: GenotypeQuality
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 473
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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: 2932
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly2504Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6254
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8496
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

12-49434050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434050
    reference: chr 12
allele count: 2
allele frequency: 1.773804455796793e-5
allele num: 112752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7503G>A
  hgvsp: ENST00000301067.7:c.7503G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19311
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly2501Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 830
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8564
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49434053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434053
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434053
    reference: chr 12
allele count: 6
allele frequency: 5.331248222917259e-5
allele num: 112544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7500G>A
  hgvsp: ENST00000301067.7:c.7500G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala2500Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11352
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14990
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-49434054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434054
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434054
    reference: chr 12
allele count: 7
allele frequency: 6.224435354792815e-5
allele num: 112460
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7499C>T
  hgvsp: ENSP00000301067.7:p.Ala2500Val
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20916
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19118
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 31226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2500Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 5
  allele frequency: 5.835667600373483e-4
  allele num: 8568
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8500
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-49434055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434055
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434055
    reference: chr 12
allele count: 5
allele frequency: 4.444918569091814e-5
allele num: 112488
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7498G>A
  hgvsp: ENSP00000301067.7:p.Ala2500Thr
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20980
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala2500Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8588
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11368
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-49434056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434056
    reference: chr 12
allele count: 17
allele frequency: 1.512320967885419e-4
allele num: 112410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7497C>T
  hgvsp: ENST00000301067.7:c.7497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20955
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2499Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.80126738250308e-5
  allele num: 11362
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.6116035455278e-5
  allele num: 62050
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-49434061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434061
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434061
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 112228
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7492C>T
  hgvsp: ENST00000301067.7:c.7492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2498Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11370
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6312
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-49434063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434063
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434063
    reference: chr 12
allele count: 3
allele frequency: 2.673558506371981e-5
allele num: 112210
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7490C>T
  hgvsp: ENSP00000301067.7:p.Ala2497Val
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala2497Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11366
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6324
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/12-49434074-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434074
    reference: chr 12
allele count: 47108
allele frequency: 4.197077690662865e-1
allele num: 112240
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7479G>T
  hgvsp: ENST00000301067.7:c.7479G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.25e1
  variant carriers: 1317
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 2904
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 7.5e0
  variant carriers: 1219
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.25e1
  variant carriers: 1994
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 2.75e1
  variant carriers: 2351
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 6.75e1
  variant carriers: 1803
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.25e1
  variant carriers: 2272
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 2836
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 4.75e1
  variant carriers: 3804
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.25e1
  variant carriers: 2244
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.75e1
  variant carriers: 3608
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 587
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 2209
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 5.25e1
  variant carriers: 3339
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 543
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 882
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 3865
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.75e1
  variant carriers: 215
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 260
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 305
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 372
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.5e0
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 276
genotype quality: GenotypeQuality
  all individuals: 14067
  bin: 6.25e1
  variant carriers: 344
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 252
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.75e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 345
genotype quality: GenotypeQuality
  all individuals: 33300
  bin: 9.75e1
  variant carriers: 33274
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.5e0
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 385
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.75e1
  variant carriers: 322
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 327
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.25e1
  variant carriers: 248
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 451
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 375
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 412
hgvs: p.Gly2493Gly
num of homozygotes: 9996
population: Latino
  type: Population
  allele count: 3121
  allele frequency: 2.742530755711775e-1
  allele num: 11380
  num of homozygotes: 448
population: Other
  type: Population
  allele count: 373
  allele frequency: 4.493975903614458e-1
  allele num: 830
  num of homozygotes: 76
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-49434074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434074
    reference: chr 12
allele count: 1
allele frequency: 8.909479686386316e-6
allele num: 112240
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7479G>A
  hgvsp: ENST00000301067.7:c.7479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly2493Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6398
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8472
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

12-49434075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434075
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434075
    reference: chr 12
allele count: 51
allele frequency: 4.654728656700071e-4
allele num: 109566
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7478G>A
  hgvsp: ENSP00000301067.7:p.Gly2493Glu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24282
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly2493Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12156
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.190034045187249e-4
  allele num: 6462
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-49434078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434078
    reference: chr 12
allele count: 1
allele frequency: 9.112613679855656e-6
allele num: 109738
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7475G>A
  hgvsp: ENSP00000301067.7:p.Gly2492Glu
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly2492Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11424
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 798
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-49434080-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434080
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434080
    reference: chr 12
allele count: 1
allele frequency: 9.11892907296967e-6
allele num: 109662
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7473T>C
  hgvsp: ENST00000301067.7:c.7473T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala2491Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8684
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11430
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-49434083-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434083
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434083
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 109364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7470G>T
  hgvsp: ENST00000301067.7:c.7470G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly2490Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8518
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 788
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-49434083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49434083
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49434083
    reference: chr 12
allele count: 1
allele frequency: 9.14377674554698e-6
allele num: 109364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167548
  ensembl protein: ENSP00000301067
  ensembl transcript: ENST00000301067
  gene symbol: KMT2D
  hgvsc: ENST00000301067.7:c.7470G>A
  hgvsp: ENST00000301067.7:c.7470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly2490Gly
num of homozygotes: 0
reference allele: C

South Asian
type: Population
allele count: 1
allele frequency: 6.102770657878677e-5
allele num: 16386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65356
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e0

FS
type: SiteQuality
SIO_000300: 6.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.363e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.737e0

VQSLOD
type: SiteQuality
SIO_000300: -2.823e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

QD
type: SiteQuality
SIO_000300: 1.756e1

DP
type: SiteQuality
SIO_000300: 1.434916e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.768033946251768e-4
allele num: 11312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65280
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.135e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.431581e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.424e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.209e0

VQSLOD
type: SiteQuality
SIO_000300: -3.801e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.113271344040575e-4
allele num: 9464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.987e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

DP
type: SiteQuality
SIO_000300: 1.413107e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.624348737552795e-5
allele num: 64874
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

DP
type: SiteQuality
SIO_000300: 1.405019e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

FS
type: SiteQuality
SIO_000300: 1.0822e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.079047971389814e-4
allele num: 64872
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 1.405861e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9396
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1181e1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

QD
type: SiteQuality
SIO_000300: 1.685e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.547e0

DP
type: SiteQuality
SIO_000300: 1.385211e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.958967926894822e-5
allele num: 11162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546168594223514e-5
allele num: 64676
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.383867e6

FS
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 1.702e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547029702970297e-5
allele num: 64640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.379803e6

VQSLOD
type: SiteQuality
SIO_000300: -2.716e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.016e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.226993865030675e-4
allele num: 16300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64674
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.380567e6

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 1.527e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545451735542299e-5
allele num: 64706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 6.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.380109e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.383308e6

VQSLOD
type: SiteQuality
SIO_000300: -2.238e0

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.376e0

QD
type: SiteQuality
SIO_000300: 9.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5500031000062e-5
allele num: 64516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.085e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

DP
type: SiteQuality
SIO_000300: 1.384901e6

QD
type: SiteQuality
SIO_000300: 7.81e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543162248078763e-5
allele num: 64802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

VQSLOD
type: SiteQuality
SIO_000300: -3.687e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

DP
type: SiteQuality
SIO_000300: 1.414791e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 1
allele frequency: 8.925383791503035e-5
allele num: 11204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 3.305e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.424367e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.128112364332837e-4
allele num: 9398
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.294e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.428428e6

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.61e-1

FS
type: SiteQuality
SIO_000300: 9.28e-1

DP
type: SiteQuality
SIO_000300: 1.439543e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.075598203850649e-5
allele num: 65028
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

DP
type: SiteQuality
SIO_000300: 1.441072e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 2.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
SIO_000300: 4.519e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
type: SiteQuality
SIO_000300: 1.445804e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.347e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.256e1

Latino
type: Population
allele count: 1
allele frequency: 8.866820358219543e-5
allele num: 11278
num of homozygotes: 0

African
type: Population
allele count: 82
allele frequency: 8.664412510566356e-3
allele num: 9464
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.45821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

DP
type: SiteQuality
SIO_000300: 1.4591e6

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

QD
type: SiteQuality
SIO_000300: 1.012e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.553e0

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.497318722312894e-4
allele num: 8578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

FS
type: SiteQuality
SIO_000300: 3.235e0

QD
type: SiteQuality
SIO_000300: 9.69e0

DP
type: SiteQuality
SIO_000300: 1.468379e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.811e0

QD
type: SiteQuality
SIO_000300: 1.094e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

DP
type: SiteQuality
SIO_000300: 1.473065e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530268715186387e-5
allele num: 65348
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.151e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

DP
type: SiteQuality
SIO_000300: 1.473178e6

QD
type: SiteQuality
SIO_000300: 7.56e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529379377848469e-5
allele num: 65386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -5.75e-1

FS
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.565e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.473108e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.760253476500616e-4
allele num: 11362
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.565e0

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: -5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 1.473108e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.218472036066772e-3
allele num: 16414
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.222e0

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 1.476593e6

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

African
type: Population
allele count: 170
allele frequency: 1.79438463162339e-2
allele num: 9474
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.271180896303566e-4
allele num: 6114
num of homozygotes: 0

Latino
type: Population
allele count: 70
allele frequency: 6.164142303628038e-3
allele num: 11356
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.330459100442787e-4
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 473
allele frequency: 7.233964457223259e-3
allele num: 65386
num of homozygotes: 3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

DP
type: SiteQuality
SIO_000300: 1.499052e6

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.392e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527697149317119e-5
allele num: 65458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.79e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 4.185e0

QD
type: SiteQuality
SIO_000300: 1.567e1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 1.476417e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

QD
type: SiteQuality
SIO_000300: 1.29e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

DP
type: SiteQuality
SIO_000300: 1.477365e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526810797605961e-5
allele num: 65496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.48e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.478299e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.750527184377006e-4
allele num: 65442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.904e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.185e1

DP
type: SiteQuality
SIO_000300: 1.478092e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527510463446675e-5
allele num: 65466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.531e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 1.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 1.47932e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.581831510782577e-5
allele num: 65476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.47967e6

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.014e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.327746741154562e-4
allele num: 8592
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.479279e6

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

FS
type: SiteQuality
SIO_000300: 2.258e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.923e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.036e0

DP
type: SiteQuality
SIO_000300: 1.480161e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529379377848469e-5
allele num: 65386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.797e0

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

DP
type: SiteQuality
SIO_000300: 1.479672e6

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 1.387e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 1.153e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.441e0

DP
type: SiteQuality
SIO_000300: 1.481086e6

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.48102e6

QD
type: SiteQuality
SIO_000300: 8.41e0

Latino
type: Population
allele count: 1
allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.48279e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.063162408870918e-5
allele num: 65292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.482921e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e0

QD
type: SiteQuality
SIO_000300: 1.022e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 2.2e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.065415976948072e-5
allele num: 65244
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

FS
type: SiteQuality
SIO_000300: 1.379e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.829e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.480009e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.472e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.309468822170901e-3
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.533930543624985e-4
allele num: 65192
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.478999e6

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.379e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65080
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.253e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.477037e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.249918752031199e-4
allele num: 6154
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.828599292941607e-4
allele num: 16406
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.229747594306269e-4
allele num: 65054
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.47661e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
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MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 3.059e0

DP
type: SiteQuality
SIO_000300: 1.471527e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 1.281e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.116e1

DP
type: SiteQuality
SIO_000300: 1.469252e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 2.201e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.468444e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

QD
type: SiteQuality
SIO_000300: 1.093e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.327e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.461484e6

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

Other
type: Population
allele count: 0
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num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.178649237472767e-4
allele num: 9180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
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MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 9.308999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -7.047e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

DP
type: SiteQuality
SIO_000300: 1.459885e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.805182641273806e-5
allele num: 64060
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.459694e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.098901098901099e-4
allele num: 9100
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.459901e6

FS
type: SiteQuality
SIO_000300: 5.428e0

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.193944712593243e-4
allele num: 9116
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

FS
type: SiteQuality
SIO_000300: 4.786e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.459171e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.7e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.449877e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.245e1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

FS
type: SiteQuality
SIO_000300: 6.367e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185056902523504e-5
allele num: 16168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.610824742268041e-4
allele num: 6208
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.447742e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 6.313e0

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.202704379109291e-5
allele num: 16122
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

FS
type: SiteQuality
SIO_000300: 3.374e1

VQSLOD
type: SiteQuality
SIO_000300: -6.493e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.446648e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.179144810046097e-5
allele num: 62910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 1.441116e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.268e0

FS
type: SiteQuality
SIO_000300: 5.983e0

QD
type: SiteQuality
SIO_000300: 2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.44042e6

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.406e1

DP
type: SiteQuality
SIO_000300: 1.438702e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.305209774089442e-4
allele num: 8676
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.351e0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.078e1

DP
type: SiteQuality
SIO_000300: 1.437397e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.25e-5
allele num: 16000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62898
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.502e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

DP
type: SiteQuality
SIO_000300: 1.437457e6

FS
type: SiteQuality
SIO_000300: 1.655e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.261e0

QD
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: -1.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.508e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.437819e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.059e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595456140910686e-5
allele num: 62678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.436598e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -4.131e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15616
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.686e0

QD
type: SiteQuality
SIO_000300: 1.449e1

DP
type: SiteQuality
SIO_000300: 1.43328e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 7.04e0

VQSLOD
type: SiteQuality
SIO_000300: -6.686e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.43427e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.747e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.489292667099286e-5
allele num: 15410
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.502e1

FS
type: SiteQuality
SIO_000300: 2.589e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

DP
type: SiteQuality
SIO_000300: 1.429975e6

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.60926939169617e-5
allele num: 62140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

DP
type: SiteQuality
SIO_000300: 1.425657e6

QD
type: SiteQuality
SIO_000300: 9.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 8.644e0

VQSLOD
type: SiteQuality
SIO_000300: -3.107e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.834498984755213e-5
allele num: 62054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.499766682221185e-4
allele num: 8572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

DP
type: SiteQuality
SIO_000300: 1.426279e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.343544269783689e-4
allele num: 14886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62042
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.426837e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.928e0

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.590330788804071e-4
allele num: 6288
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.346257404415724e-4
allele num: 14856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.221753278133961e-5
allele num: 62078
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.045e1

FS
type: SiteQuality
SIO_000300: 4.218e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.428557e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14786
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.744591765526867e-3
allele num: 8598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

DP
type: SiteQuality
SIO_000300: 1.429888e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14558
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.431323e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.885e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 4.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

African
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: 14502
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.524436090225564e-4
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62064
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

DP
type: SiteQuality
SIO_000300: 1.432577e6

MQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.114e0

FS
type: SiteQuality
SIO_000300: 7.595e0

VQSLOD
type: SiteQuality
SIO_000300: -5.629999999999999e-1

African
type: Population
allele count: 4208
allele frequency: 4.779645615629259e-1
allele num: 8804
num of homozygotes: 993

European (Finnish)
type: Population
allele count: 2791
allele frequency: 4.36230071897468e-1
allele num: 6398
num of homozygotes: 588

East Asian
type: Population
allele count: 3707
allele frequency: 4.375590179414542e-1
allele num: 8472
num of homozygotes: 800

South Asian
type: Population
allele count: 6808
allele frequency: 4.848312206238428e-1
allele num: 14042
num of homozygotes: 1658

European (Non-Finnish)
type: Population
allele count: 26100
allele frequency: 4.188464871457457e-1
allele num: 62314
num of homozygotes: 5433

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 1.271e0

QD
type: SiteQuality
SIO_000300: 1.906e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 2.16891e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604775812818949e-5
allele num: 62314
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.906e1

FS
type: SiteQuality
SIO_000300: 1.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 2.16891e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

Latino
type: Population
allele count: 18
allele frequency: 1.576182136602452e-3
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.153668666359022e-4
allele num: 8668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.549738390042572e-4
allele num: 61542
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.481239e6

FS
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621639152855706e-5
allele num: 61666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12168
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.628e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

FS
type: SiteQuality
SIO_000300: 3.897e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 1.478851e6

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 2.182e0

DP
type: SiteQuality
SIO_000300: 1.479328e6

QD
type: SiteQuality
SIO_000300: 2.9e1

VQSLOD
type: SiteQuality
SIO_000300: -2.644e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.047e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.215e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.225e0

DP
type: SiteQuality
SIO_000300: 1.478547e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 2.636e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1