12-99053088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053088
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.677G>A
  hgvsp: ENSP00000349862.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.677G>A
  hgvsp: ENSP00000449791.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.677G>A
  hgvsp: ENSP00000448826.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.644G>A
  hgvsp: ENSP00000448449.1:p.Arg215His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.677G>A
  hgvsp: ENSP00000448161.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.644G>A
  hgvsp: ENSP00000353059.2:p.Arg215His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.677G>A
  hgvsp: ENSP00000341830.3:p.Arg226His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.677G>A
  hgvsp: ENSP00000334558.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.677G>A
  hgvsp: ENSP00000448165.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23440
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg226His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-99053093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053093
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053093
    reference: chr 12
allele count: 5
allele frequency: 4.119702063146793e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.682C>T
  hgvsp: ENSP00000448826.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.682C>T
  hgvsp: ENSP00000448165.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.682C>T
  hgvsp: ENSP00000334558.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.682C>T
  hgvsp: ENSP00000341830.3:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.649C>T
  hgvsp: ENSP00000448449.1:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.682C>T
  hgvsp: ENSP00000349862.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.682C>T
  hgvsp: ENSP00000449791.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.649C>T
  hgvsp: ENSP00000353059.2:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.682C>T
  hgvsp: ENSP00000448161.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23439
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg228Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

12-99053108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053108
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053108
    reference: chr 12
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.697C>T
  hgvsp: ENSP00000334558.1:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.664C>T
  hgvsp: ENSP00000353059.2:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.697C>T
  hgvsp: ENSP00000349862.1:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.697C>T
  hgvsp: ENSP00000341830.3:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.697C>T
  hgvsp: ENSP00000448161.1:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.664C>T
  hgvsp: ENSP00000448449.1:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.697C>T
  hgvsp: ENSP00000448826.1:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.697C>T
  hgvsp: ENSP00000449791.1:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.697C>T
  hgvsp: ENSP00000448165.1:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg233Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-99053109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053109
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053109
    reference: chr 12
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.698G>A
  hgvsp: ENSP00000448826.1:p.Arg233His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.698G>A
  hgvsp: ENSP00000334558.1:p.Arg233His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.665G>A
  hgvsp: ENSP00000353059.2:p.Arg222His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.665G>A
  hgvsp: ENSP00000448449.1:p.Arg222His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.698G>A
  hgvsp: ENSP00000448161.1:p.Arg233His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.698G>A
  hgvsp: ENSP00000341830.3:p.Arg233His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.698G>A
  hgvsp: ENSP00000448165.1:p.Arg233His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.698G>A
  hgvsp: ENSP00000349862.1:p.Arg233His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.698G>A
  hgvsp: ENSP00000449791.1:p.Arg233His
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23436
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg233His
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-99053112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053112
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053112
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.668A>G
  hgvsp: ENSP00000448449.1:p.Lys223Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.701A>G
  hgvsp: ENSP00000349862.1:p.Lys234Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.701A>G
  hgvsp: ENSP00000449791.1:p.Lys234Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.668A>G
  hgvsp: ENSP00000353059.2:p.Lys223Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.701A>G
  hgvsp: ENSP00000334558.1:p.Lys234Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.701A>G
  hgvsp: ENSP00000448161.1:p.Lys234Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.701A>G
  hgvsp: ENSP00000448826.1:p.Lys234Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.701A>G
  hgvsp: ENSP00000448165.1:p.Lys234Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.701A>G
  hgvsp: ENSP00000341830.3:p.Lys234Arg
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys234Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-99053114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053114
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053114
    reference: chr 12
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.670C>T
  hgvsp: ENSP00000448449.1:p.His224Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.703C>T
  hgvsp: ENSP00000448161.1:p.His235Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.703C>T
  hgvsp: ENSP00000349862.1:p.His235Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.703C>T
  hgvsp: ENSP00000334558.1:p.His235Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.703C>T
  hgvsp: ENSP00000448165.1:p.His235Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.703C>T
  hgvsp: ENSP00000341830.3:p.His235Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.670C>T
  hgvsp: ENSP00000353059.2:p.His224Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.703C>T
  hgvsp: ENSP00000448826.1:p.His235Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.703C>T
  hgvsp: ENSP00000449791.1:p.His235Tyr
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His235Tyr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-99053126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053126
    reference: chr 12
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.710+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.677+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.710+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.710+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.710+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.710+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.677+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.710+5C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.710+5C>T
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
hgvs: c.710+5C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-99053127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053127
    reference: chr 12
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.677+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.710+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.710+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.710+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.710+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.710+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.710+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.677+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.710+6G>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.710+6G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-99053129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053129
    reference: chr 12
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.710+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.710+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.710+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.710+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.677+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.710+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.710+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.710+8T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.677+8T>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.710+8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-99053145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053145
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053145
    reference: chr 12
allele count: 4
allele frequency: 3.298642608566575e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.677+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.710+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.677+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.710+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.710+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.710+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.710+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.710+24G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.710+24G>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-99053156-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053156
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053156
    reference: chr 12
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.677+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.710+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.710+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.677+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.710+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.710+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.710+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.710+35C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.710+35C>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-99053157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053157
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053157
    reference: chr 12
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.710+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.710+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.710+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.677+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.710+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.710+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.710+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.710+36C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.677+36C>T
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-99053167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99053167
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99053167
    reference: chr 12
allele count: 3
allele frequency: 2.476882430647292e-5
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.677+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.710+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.710+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.677+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.710+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.710+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.710+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.710+46A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.710+46A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-99056190-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056190
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056187
    reference: chr 12
allele count: 1
allele frequency: 8.842827582547795e-6
allele num: 113086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-42_711-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-42_678-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-42_711-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-42_711-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-42_711-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-42_678-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-42_711-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-42_711-40delAGA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-42_711-40delAGA
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10064
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: TAAG
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-99056194-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056194
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056194
    reference: chr 12
allele count: 8
allele frequency: 7.067887055164858e-5
allele num: 113188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-40A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-40A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16124
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10074
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-99056198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056198
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056198
    reference: chr 12
allele count: 1
allele frequency: 8.825190624117481e-6
allele num: 113312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-36G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-36G>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

12-99056203-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056203
    reference: chr 12
allele count: 3
allele frequency: 2.632317843605222e-5
allele num: 113968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-31A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-31A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-99056206-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056206
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056206
    reference: chr 12
allele count: 1
allele frequency: 8.74691671185907e-6
allele num: 114326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-28A>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-28A>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-99056209-GATTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056209
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056205
    reference: chr 12
allele count: 6
allele frequency: 5.220932458537095e-5
allele num: 114922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-22_711-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-22_711-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-22_711-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-22_711-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-22_711-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-22_678-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-22_678-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-22_711-19delTAAT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-22_711-19delTAAT
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: GATTA
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-99056215-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056214
    reference: chr 12
allele count: 15
allele frequency: 1.288859101922978e-4
allele num: 116382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-18delA
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-18delA
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22464
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: TA
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-99056216-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056216
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056215
    reference: chr 12
allele count: 600
allele frequency: 5.734383362642404e-3
allele num: 104632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-8delT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-8delT
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 2.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 6.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.25e1
  variant carriers: 14
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: AT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-99056216-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056216
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056217
    reference: chr 12
allele count: 30
allele frequency: 2.867191681321202e-4
allele num: 104632
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-8dupT
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-8dupT
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-99056216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056216
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056216
    reference: chr 12
allele count: 1
allele frequency: 9.557305604404006e-6
allele num: 104632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-18A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-18A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-99056216-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056216
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056216
    reference: chr 12
allele count: 2
allele frequency: 1.911461120880801e-5
allele num: 104632
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6842
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6388
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10100
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.751252145283878e-5
  allele num: 57102
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 822
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-99056218-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056218
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056218
    reference: chr 12
allele count: 14
allele frequency: 1.283438147448708e-4
allele num: 109082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-16T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-16T>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15461
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

12-99056226-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056226
    reference: chr 12
allele count: 22
allele frequency: 1.8480561809079e-4
allele num: 119044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-8T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-8T>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10412
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
hgvs: c.711-8T>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-99056227-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056227
    reference: chr 12
allele count: 3
allele frequency: 2.513489057944301e-5
allele num: 119356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-7A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-7A>T
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
hgvs: c.711-7A>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-99056229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056229
    reference: chr 12
allele count: 2
allele frequency: 1.666222340709144e-5
allele num: 120032
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678-5A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711-5A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
hgvs: c.711-5A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

12-99056234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056234
    reference: chr 12
allele count: 3
allele frequency: 2.483937206067431e-5
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711G>A
  hgvsp: ENST00000551964.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678G>A
  hgvsp: ENST00000550527.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678G>A
  hgvsp: ENST00000359972.2:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711G>A
  hgvsp: ENST00000549007.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711G>A
  hgvsp: ENST00000552268.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711G>A
  hgvsp: ENST00000357310.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711G>A
  hgvsp: ENST00000339433.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711G>A
  hgvsp: ENST00000333991.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711G>A
  hgvsp: ENST00000547045.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
hgvs: c.711G>A
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-99056234-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056234
    reference: chr 12
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.711G>T
  hgvsp: ENSP00000349862.1:p.Arg237Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.711G>T
  hgvsp: ENSP00000449791.1:p.Arg237Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.711G>T
  hgvsp: ENSP00000334558.1:p.Arg237Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.678G>T
  hgvsp: ENSP00000448449.1:p.Arg226Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.711G>T
  hgvsp: ENSP00000341830.3:p.Arg237Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.711G>T
  hgvsp: ENSP00000448165.1:p.Arg237Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.711G>T
  hgvsp: ENSP00000448826.1:p.Arg237Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.678G>T
  hgvsp: ENSP00000353059.2:p.Arg226Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.711G>T
  hgvsp: ENSP00000448161.1:p.Arg237Ser
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg237Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-99056249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056249
    reference: chr 12
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.693G>A
  hgvsp: ENST00000359972.2:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.726G>A
  hgvsp: ENST00000552268.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.693G>A
  hgvsp: ENST00000550527.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.726G>A
  hgvsp: ENST00000549007.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.726G>A
  hgvsp: ENST00000339433.3:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.726G>A
  hgvsp: ENST00000333991.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.726G>A
  hgvsp: ENST00000547045.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.726G>A
  hgvsp: ENST00000551964.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.726G>A
  hgvsp: ENST00000357310.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu242Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-99056266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056266
    reference: chr 12
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.743C>G
  hgvsp: ENSP00000448161.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.743C>G
  hgvsp: ENSP00000341830.3:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.743C>G
  hgvsp: ENSP00000334558.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.743C>G
  hgvsp: ENSP00000449791.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.743C>G
  hgvsp: ENSP00000448826.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.743C>G
  hgvsp: ENSP00000448165.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.710C>G
  hgvsp: ENSP00000353059.2:p.Ser237Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.710C>G
  hgvsp: ENSP00000448449.1:p.Ser237Cys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.743C>G
  hgvsp: ENSP00000349862.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser248Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

12-99056269-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056269
    reference: chr 12
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.746G>C
  hgvsp: ENSP00000448165.1:p.Trp249Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.746G>C
  hgvsp: ENSP00000448161.1:p.Trp249Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.746G>C
  hgvsp: ENSP00000449791.1:p.Trp249Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.746G>C
  hgvsp: ENSP00000349862.1:p.Trp249Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.746G>C
  hgvsp: ENSP00000341830.3:p.Trp249Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.746G>C
  hgvsp: ENSP00000334558.1:p.Trp249Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.713G>C
  hgvsp: ENSP00000353059.2:p.Trp238Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.713G>C
  hgvsp: ENSP00000448449.1:p.Trp238Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.746G>C
  hgvsp: ENSP00000448826.1:p.Trp249Ser
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp249Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-99056289-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056288
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.767delG
  hgvsp: ENSP00000334558.1:p.Ser256IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.767delG
  hgvsp: ENSP00000341830.3:p.Ser256IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.767delG
  hgvsp: ENSP00000349862.1:p.Ser256IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.734delG
  hgvsp: ENSP00000448449.1:p.Ser245IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.767delG
  hgvsp: ENSP00000448165.1:p.Ser256IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.767delG
  hgvsp: ENSP00000449791.1:p.Ser256IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.767delG
  hgvsp: ENSP00000448826.1:p.Ser256IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.767delG
  hgvsp: ENSP00000448161.1:p.Ser256IlefsTer18
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.734delG
  hgvsp: ENSP00000353059.2:p.Ser245IlefsTer18
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser256IlefsTer18
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: AG
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-99056295-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056295
    reference: chr 12
allele count: 6
allele frequency: 4.944212798918866e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.772T>A
  hgvsp: ENSP00000448826.1:p.Cys258Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.772T>A
  hgvsp: ENSP00000448165.1:p.Cys258Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.772T>A
  hgvsp: ENSP00000449791.1:p.Cys258Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.772T>A
  hgvsp: ENSP00000341830.3:p.Cys258Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.739T>A
  hgvsp: ENSP00000448449.1:p.Cys247Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.739T>A
  hgvsp: ENSP00000353059.2:p.Cys247Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.772T>A
  hgvsp: ENSP00000448161.1:p.Cys258Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.772T>A
  hgvsp: ENSP00000349862.1:p.Cys258Ser
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.772T>A
  hgvsp: ENSP00000334558.1:p.Cys258Ser
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29537
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys258Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-99056296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056296
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056296
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.773G>A
  hgvsp: ENSP00000341830.3:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.740G>A
  hgvsp: ENSP00000448449.1:p.Cys247Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.773G>A
  hgvsp: ENSP00000449791.1:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.740G>A
  hgvsp: ENSP00000353059.2:p.Cys247Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.773G>A
  hgvsp: ENSP00000448165.1:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.773G>A
  hgvsp: ENSP00000448826.1:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.773G>A
  hgvsp: ENSP00000349862.1:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.773G>A
  hgvsp: ENSP00000334558.1:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.773G>A
  hgvsp: ENSP00000448161.1:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys258Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-99056304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056304
    reference: chr 12
allele count: 23
allele frequency: 1.895344046147507e-4
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.781C>T
  hgvsp: ENSP00000448165.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.781C>T
  hgvsp: ENSP00000349862.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.748C>T
  hgvsp: ENSP00000448449.1:p.Leu250Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.781C>T
  hgvsp: ENSP00000334558.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.781C>T
  hgvsp: ENSP00000448161.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.781C>T
  hgvsp: ENSP00000448826.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.781C>T
  hgvsp: ENSP00000449791.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.781C>T
  hgvsp: ENSP00000341830.3:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.748C>T
  hgvsp: ENSP00000353059.2:p.Leu250Phe
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu261Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-99056328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056328
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056328
    reference: chr 12
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.805G>A
  hgvsp: ENSP00000448826.1:p.Val269Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.772G>A
  hgvsp: ENSP00000353059.2:p.Val258Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.805G>A
  hgvsp: ENSP00000449791.1:p.Val269Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.805G>A
  hgvsp: ENSP00000341830.3:p.Val269Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.805G>A
  hgvsp: ENSP00000448161.1:p.Val269Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.805G>A
  hgvsp: ENSP00000448165.1:p.Val269Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.772G>A
  hgvsp: ENSP00000448449.1:p.Val258Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.805G>A
  hgvsp: ENSP00000334558.1:p.Val269Ile
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.805G>A
  hgvsp: ENSP00000349862.1:p.Val269Ile
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8574
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val269Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-99056352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056352
    reference: chr 12
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+6G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+6G>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: c.823+6G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-99056357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056357
    reference: chr 12
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+11T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+11T>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS

12-99056359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056359
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056359
    reference: chr 12
allele count: 234
allele frequency: 1.936412836596548e-3
allele num: 120842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+13C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+13C>T
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-99056360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056360
    reference: chr 12
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+14G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+14G>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-99056369-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056369
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056369
    reference: chr 12
allele count: 1
allele frequency: 8.36456102783726e-6
allele num: 119552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+23T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+23T>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-99056375-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056375
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056375
    reference: chr 12
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+29C>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+29C>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

12-99056375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056375
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056375
    reference: chr 12
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+29C>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+29C>T
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-99056380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056380
    reference: chr 12
allele count: 16
allele frequency: 1.373390557939914e-4
allele num: 116500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+34A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-99056382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056382
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056382
    reference: chr 12
allele count: 1
allele frequency: 8.746457684637721e-6
allele num: 114332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+36A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+36A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10463
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-99056388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056388
    reference: chr 12
allele count: 2
allele frequency: 1.775599708801648e-5
allele num: 112638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+42T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+42T>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-99056389-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056389
    reference: chr 12
allele count: 1
allele frequency: 8.843609607697478e-6
allele num: 113076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+43T>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+43T>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-99056395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056395
    reference: chr 12
allele count: 1
allele frequency: 8.742481465939292e-6
allele num: 114384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.790+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.823+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.790+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.823+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.823+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.823+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.823+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.823+49A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.823+49A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

12-99056406-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056406
    reference: chr 12
allele count: 2
allele frequency: 1.71503052754339e-5
allele num: 116616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-47T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-47T>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-99056410-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056410
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056410
    reference: chr 12
allele count: 1
allele frequency: 8.577800651912849e-6
allele num: 116580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-43A>T
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-43A>T
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-99056419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056419
    reference: chr 12
allele count: 1
allele frequency: 8.548469823901522e-6
allele num: 116980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-34A>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-34A>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-99056425-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056425
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056425
    reference: chr 12
allele count: 5
allele frequency: 4.263301500682128e-5
allele num: 117280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-28T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-28T>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-99056430-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056430
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056430
    reference: chr 12
allele count: 9
allele frequency: 7.650068850619656e-5
allele num: 117646
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-23T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-23T>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18665
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-99056431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056431
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056431
    reference: chr 12
allele count: 1
allele frequency: 8.497909514259493e-6
allele num: 117676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-22G>A
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-22G>A
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20097
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-99056434-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056434
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056434
    reference: chr 12
allele count: 2
allele frequency: 1.694283487513131e-5
allele num: 118044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-19T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-19T>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-99056435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056435
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056435
    reference: chr 12
allele count: 1
allele frequency: 8.464676903282601e-6
allele num: 118138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-18T>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-18T>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-99056443-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056443
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056443
    reference: chr 12
allele count: 1
allele frequency: 8.424315945545221e-6
allele num: 118704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-10T>G
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-10T>G
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-99056449-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056449
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056449
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 119022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.824-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.824-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.824-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.824-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.824-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.824-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.791-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.824-4G>C
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.791-4G>C
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: c.824-4G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

12-99056492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056492
    reference: chr 12
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.863A>G
  hgvsp: ENSP00000448161.1:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.830A>G
  hgvsp: ENSP00000353059.2:p.Lys277Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.830A>G
  hgvsp: ENSP00000448449.1:p.Lys277Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.863A>G
  hgvsp: ENSP00000349862.1:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.863A>G
  hgvsp: ENSP00000448826.1:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.863A>G
  hgvsp: ENSP00000334558.1:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.863A>G
  hgvsp: ENSP00000341830.3:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.863A>G
  hgvsp: ENSP00000449791.1:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.863A>G
  hgvsp: ENSP00000448165.1:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys288Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-99056493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056493
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056493
    reference: chr 12
allele count: 5
allele frequency: 4.169098640873843e-5
allele num: 119930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.864G>A
  hgvsp: ENST00000549007.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.864G>A
  hgvsp: ENST00000547045.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.864G>A
  hgvsp: ENST00000333991.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.864G>A
  hgvsp: ENST00000552268.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.831G>A
  hgvsp: ENST00000550527.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.831G>A
  hgvsp: ENST00000359972.2:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.864G>A
  hgvsp: ENST00000551964.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.864G>A
  hgvsp: ENST00000357310.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.864G>A
  hgvsp: ENST00000339433.3:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys288Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-99056501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056501
    reference: chr 12
allele count: 4
allele frequency: 3.334556003868085e-5
allele num: 119956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.872G>A
  hgvsp: ENSP00000341830.3:p.Gly291Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.839G>A
  hgvsp: ENSP00000353059.2:p.Gly280Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.872G>A
  hgvsp: ENSP00000448826.1:p.Gly291Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.839G>A
  hgvsp: ENSP00000448449.1:p.Gly280Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.872G>A
  hgvsp: ENSP00000448165.1:p.Gly291Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.872G>A
  hgvsp: ENSP00000334558.1:p.Gly291Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.872G>A
  hgvsp: ENSP00000448161.1:p.Gly291Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.872G>A
  hgvsp: ENSP00000449791.1:p.Gly291Glu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.872G>A
  hgvsp: ENSP00000349862.1:p.Gly291Glu
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20825
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly291Glu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

12-99056509-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056508
    reference: chr 12
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.884delT
  hgvsp: ENSP00000448161.1:p.Leu295TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.884delT
  hgvsp: ENSP00000448165.1:p.Leu295TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.884delT
  hgvsp: ENSP00000349862.1:p.Leu295TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.851delT
  hgvsp: ENSP00000353059.2:p.Leu284TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.851delT
  hgvsp: ENSP00000448449.1:p.Leu284TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.884delT
  hgvsp: ENSP00000448826.1:p.Leu295TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.884delT
  hgvsp: ENSP00000341830.3:p.Leu295TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.884delT
  hgvsp: ENSP00000334558.1:p.Leu295TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.884delT
  hgvsp: ENSP00000449791.1:p.Leu295TyrfsTer7
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu295TyrfsTer7
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: AT
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-99056527-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056527
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056527
    reference: chr 12
allele count: 32
allele frequency: 2.668000667000167e-4
allele num: 119940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.898A>C
  hgvsp: ENSP00000334558.1:p.Asn300His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.898A>C
  hgvsp: ENSP00000341830.3:p.Asn300His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.865A>C
  hgvsp: ENSP00000353059.2:p.Asn289His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.898A>C
  hgvsp: ENSP00000448826.1:p.Asn300His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.898A>C
  hgvsp: ENSP00000448165.1:p.Asn300His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.865A>C
  hgvsp: ENSP00000448449.1:p.Asn289His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.898A>C
  hgvsp: ENSP00000349862.1:p.Asn300His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.898A>C
  hgvsp: ENSP00000449791.1:p.Asn300His
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.898A>C
  hgvsp: ENSP00000448161.1:p.Asn300His
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22078
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn300His
num of homozygotes: 1
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

12-99056531-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056531
    reference: chr 12
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.902T>A
  hgvsp: ENSP00000341830.3:p.Met301Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.869T>A
  hgvsp: ENSP00000448449.1:p.Met290Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.902T>A
  hgvsp: ENSP00000334558.1:p.Met301Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.902T>A
  hgvsp: ENSP00000448165.1:p.Met301Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.902T>A
  hgvsp: ENSP00000349862.1:p.Met301Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.869T>A
  hgvsp: ENSP00000353059.2:p.Met290Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.902T>A
  hgvsp: ENSP00000449791.1:p.Met301Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.902T>A
  hgvsp: ENSP00000448826.1:p.Met301Lys
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.902T>A
  hgvsp: ENSP00000448161.1:p.Met301Lys
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met301Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

12-99056539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056539
    reference: chr 12
allele count: 3
allele frequency: 2.503839220137544e-5
allele num: 119816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.877G>A
  hgvsp: ENSP00000448449.1:p.Ala293Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.910G>A
  hgvsp: ENSP00000349862.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.910G>A
  hgvsp: ENSP00000448165.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.910G>A
  hgvsp: ENSP00000448826.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.910G>A
  hgvsp: ENSP00000448161.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.910G>A
  hgvsp: ENSP00000334558.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.910G>A
  hgvsp: ENSP00000341830.3:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.877G>A
  hgvsp: ENSP00000353059.2:p.Ala293Thr
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.910G>A
  hgvsp: ENSP00000449791.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21081
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala304Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

12-99056540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056540
    reference: chr 12
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.911C>T
  hgvsp: ENSP00000449791.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.911C>T
  hgvsp: ENSP00000448826.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.878C>T
  hgvsp: ENSP00000353059.2:p.Ala293Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.878C>T
  hgvsp: ENSP00000448449.1:p.Ala293Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.911C>T
  hgvsp: ENSP00000448165.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.911C>T
  hgvsp: ENSP00000341830.3:p.Ala304Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.911C>T
  hgvsp: ENSP00000334558.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.911C>T
  hgvsp: ENSP00000448161.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.911C>T
  hgvsp: ENSP00000349862.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala304Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-99056541-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056541
    reference: chr 12
allele count: 5
allele frequency: 4.174319585907497e-5
allele num: 119780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.912A>G
  hgvsp: ENST00000339433.3:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.912A>G
  hgvsp: ENST00000551964.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.912A>G
  hgvsp: ENST00000547045.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.879A>G
  hgvsp: ENST00000359972.2:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.912A>G
  hgvsp: ENST00000333991.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.912A>G
  hgvsp: ENST00000549007.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.912A>G
  hgvsp: ENST00000552268.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.879A>G
  hgvsp: ENST00000550527.1:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.912A>G
  hgvsp: ENST00000357310.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala304Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-99056555-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99056555
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 99056555
    reference: chr 12
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448826
  ensembl transcript: ENST00000552268
  gene symbol: APAF1
  hgvsc: ENST00000552268.1:c.926A>T
  hgvsp: ENSP00000448826.1:p.Gln309Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000341830
  ensembl transcript: ENST00000339433
  gene symbol: APAF1
  hgvsc: ENST00000339433.3:c.926A>T
  hgvsp: ENSP00000341830.3:p.Gln309Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000449791
  ensembl transcript: ENST00000547045
  gene symbol: APAF1
  hgvsc: ENST00000547045.1:c.926A>T
  hgvsp: ENSP00000449791.1:p.Gln309Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000353059
  ensembl transcript: ENST00000359972
  gene symbol: APAF1
  hgvsc: ENST00000359972.2:c.893A>T
  hgvsp: ENSP00000353059.2:p.Gln298Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000334558
  ensembl transcript: ENST00000333991
  gene symbol: APAF1
  hgvsc: ENST00000333991.1:c.926A>T
  hgvsp: ENSP00000334558.1:p.Gln309Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448449
  ensembl transcript: ENST00000550527
  gene symbol: APAF1
  hgvsc: ENST00000550527.1:c.893A>T
  hgvsp: ENSP00000448449.1:p.Gln298Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448165
  ensembl transcript: ENST00000551964
  gene symbol: APAF1
  hgvsc: ENST00000551964.1:c.926A>T
  hgvsp: ENSP00000448165.1:p.Gln309Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000448161
  ensembl transcript: ENST00000549007
  gene symbol: APAF1
  hgvsc: ENST00000549007.1:c.926A>T
  hgvsp: ENSP00000448161.1:p.Gln309Leu
  variant of: http://identifiers.org/hgnc/576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120868
  ensembl protein: ENSP00000349862
  ensembl transcript: ENST00000357310
  gene symbol: APAF1
  hgvsc: ENST00000357310.1:c.926A>T
  hgvsp: ENSP00000349862.1:p.Gln309Leu
  variant of: http://identifiers.org/hgnc/576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln309Leu
num of homozygotes: 0
reference allele: A

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6045
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.263e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.172e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

DP
type: SiteQuality
SIO_000300: 2.40852e6

QD
type: SiteQuality
SIO_000300: 1.088e1

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4847
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.408406e6

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6022
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12259
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23435
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4554
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.868e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

DP
type: SiteQuality
SIO_000300: 2.407588e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.474e0

MQ
type: SiteQuality
SIO_000300: 5.854e1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 4837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12263
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.13e1

FS
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.085e0

QD
type: SiteQuality
SIO_000300: 2.654e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.352e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

DP
type: SiteQuality
SIO_000300: 2.407298e6

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

GenotypeQuality
all individuals: 12264
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6011
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2383
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.407052e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

QD
type: SiteQuality
SIO_000300: 1.319e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

FS
type: SiteQuality
SIO_000300: 1.946e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4835
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2995
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 6.34e0

MQRankSum
type: SiteQuality
SIO_000300: -1.835e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.798e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

DP
type: SiteQuality
SIO_000300: 2.406907e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23436
bin: 9.75e1
variant carriers: 2

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

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

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

GenotypeQuality
all individuals: 12170
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.384e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 1.0242e1

MQ
type: SiteQuality
SIO_000300: 5.891e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.405473e6

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.255e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23438
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2382
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.473e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.896e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 2.40539e6

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.55e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

QD
type: SiteQuality
SIO_000300: 6.22e0

FS
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.712e0

DP
type: SiteQuality
SIO_000300: 2.404643e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23436
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.464403256539061e-4
allele num: 11546
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.398987e6

FS
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 4013
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10698
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.384812e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.397e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.359e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.504e1

MQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4011
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variant carriers: 0

GenotypeQuality
all individuals: 4500
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.384627e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.387e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

GenotypeQuality
all individuals: 1108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 756
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23407
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

QD
type: SiteQuality
SIO_000300: 1.547e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

DP
type: SiteQuality
SIO_000300: 2.361309e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3224
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618280091918309e-5
allele num: 61794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.485e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 1.715204e6

MQRankSum
type: SiteQuality
SIO_000300: -2.051e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

GenotypeQuality
all individuals: 2625
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.293619223181656e-4
allele num: 61842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 1.734372e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 10067
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1271
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variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.931761343336905e-5
allele num: 11196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.75309e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10076
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.814018421643827e-5
allele num: 62318
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.412e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 1.78509e6

GenotypeQuality
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2740
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variant carriers: 0

GenotypeQuality
all individuals: 6620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.091941471937104e-4
allele num: 9158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.80147e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

GenotypeQuality
all individuals: 24782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2783
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1192
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10084
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6794
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62914
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.73134328358209e-4
allele num: 16080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQ
type: SiteQuality
SIO_000300: 5.651e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.438e0

DP
type: SiteQuality
SIO_000300: 1.823855e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 8.33e0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10109
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variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.93339911198816e-4
allele num: 16216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.129471890971039e-4
allele num: 9392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.27549419516787e-5
allele num: 63740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 6.035e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 1.855716e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 7.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

GenotypeQuality
all individuals: 1459
bin: 4.75e1
variant carriers: 40

GenotypeQuality
all individuals: 938
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1189
bin: 7.5e0
variant carriers: 93

GenotypeQuality
all individuals: 6842
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 3413
bin: 2.5e0
variant carriers: 113

GenotypeQuality
all individuals: 944
bin: 1.75e1
variant carriers: 82

GenotypeQuality
all individuals: 1148
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1660
bin: 3.75e1
variant carriers: 55

GenotypeQuality
all individuals: 1727
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1145
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variant carriers: 30

GenotypeQuality
all individuals: 2334
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variant carriers: 10

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 75

GenotypeQuality
all individuals: 1477
bin: 4.25e1
variant carriers: 55

GenotypeQuality
all individuals: 19427
bin: 6.25e1
variant carriers: 33

African
type: Population
allele count: 31
allele frequency: 3.542047531992687e-3
allele num: 8752
num of homozygotes: 0

Latino
type: Population
allele count: 34
allele frequency: 3.366336633663366e-3
allele num: 10100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.39261114589856e-4
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 390
allele frequency: 6.829883366607124e-3
allele num: 57102
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.712543092018033e-3
allele num: 7542
num of homozygotes: 0

South Asian
type: Population
allele count: 106
allele frequency: 7.611661640097659e-3
allele num: 13926
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.082725060827251e-3
allele num: 822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

QD
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 2.209492e6

VQSLOD
type: SiteQuality
SIO_000300: -2.03e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

FS
type: SiteQuality
SIO_000300: 2.763e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeQuality
all individuals: 3395
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 19427
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3413
bin: 2.5e0
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GenotypeQuality
all individuals: 1069
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variant carriers: 12

GenotypeQuality
all individuals: 1459
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 938
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variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 7.5e0
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GenotypeQuality
all individuals: 1922
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variant carriers: 1

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 6842
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1477
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1660
bin: 3.75e1
variant carriers: 4

Latino
type: Population
allele count: 2
allele frequency: 1.98019801980198e-4
allele num: 10100
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.303632988597189e-4
allele num: 7542
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.285191956124314e-4
allele num: 8752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.327379076039368e-4
allele num: 57102
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.154243860404998e-4
allele num: 13926
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 2.763e0

DP
type: SiteQuality
SIO_000300: 2.209492e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

QD
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 944
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variant carriers: 0

GenotypeQuality
all individuals: 938
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2334
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2105
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variant carriers: 0

GenotypeQuality
all individuals: 19427
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
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variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.180812868016659e-5
allele num: 13926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.03e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 2.763e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.209492e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

QD
type: SiteQuality
SIO_000300: 3.6e-1

African
type: Population
allele count: 1
allele frequency: 1.142595978062157e-4
allele num: 8752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.03e-2

QD
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 2.763e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.209492e6

GenotypeQuality
all individuals: 2421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2838
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GenotypeQuality
all individuals: 507
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variant carriers: 0

GenotypeQuality
all individuals: 21585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
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GenotypeQuality
all individuals: 8434
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2679
bin: 2.25e1
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GenotypeQuality
all individuals: 1348
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GenotypeQuality
all individuals: 6199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 7
allele frequency: 7.682177348551361e-4
allele num: 9112
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.560163850486431e-4
allele num: 7812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.364284753061499e-5
allele num: 59448
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.473285335354301e-5
allele num: 10556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.3457139012246e-4
allele num: 14862
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.161e0

FS
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 2.191481e6

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.15839531764419e-3
allele num: 16402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.077554370127206e-4
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65422
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
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SIO_000300: 5.569e0

MQRankSum
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SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

ClippingRankSum
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SIO_000300: -1.724e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: -3.186e0

ReadPosRankSum
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SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 2.12701e6

QD
type: SiteQuality
SIO_000300: 3.268e1

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523925632429137e-5
allele num: 65620
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.641e-1

FS
type: SiteQuality
SIO_000300: 2.571e0

QD
type: SiteQuality
SIO_000300: 7.12e0

DP
type: SiteQuality
SIO_000300: 2.132e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.740038280842179e-4
allele num: 11494
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-1

FS
type: SiteQuality
SIO_000300: 5.488e0

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
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SIO_000300: 5.949e1

MQRankSum
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SIO_000300: 4.29e-1

BaseQRankSum
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SIO_000300: 2.77e0

DP
type: SiteQuality
SIO_000300: 2.141161e6

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.819063788503517e-4
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.022e1

FS
type: SiteQuality
SIO_000300: 3.412e0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.14984e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -8.85e-1

InbreedingCoeff
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SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.693e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.54e-1

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.978e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

East Asian
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Other
type: Population
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 1.14e0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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Latino
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66712
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 66712
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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FS
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 18
allele frequency: 2.698327037236913e-4
allele num: 66708
num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 6.049606775559589e-4
allele num: 6612
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
type: Population
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DP
type: SiteQuality
SIO_000300: 2.158921e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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BaseQRankSum
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MQ
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SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
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SIO_000300: -1.6e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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allele num: 8654
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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Other
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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DP
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele count: 1
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allele num: 66506
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South Asian
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Other
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 9.04213635541624e-5
allele num: 66356
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East Asian
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African
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allele frequency: 2.150329329717164e-2
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Other
type: Population
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South Asian
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10012
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65610
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6568
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.024590163934426e-4
allele num: 9760
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East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
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DP
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SIO_000300: 2.031015e6

MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.542020046260601e-5
allele num: 64850
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8476
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
type: SiteQuality
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ClippingRankSum
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MQ
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QD
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MQRankSum
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SIO_000300: -5.620000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.323e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 896
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63784
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8300
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16136
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Latino
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allele count: 16
allele frequency: 1.403262585511314e-3
allele num: 11402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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MQ
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.601691386103726e-5
allele num: 62434
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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MQ
type: SiteQuality
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DP
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

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

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

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

African
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allele frequency: 2.239140170174653e-4
allele num: 8932
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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South Asian
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European (Non-Finnish)
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African
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FS
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62506
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 2.398e0

DP
type: SiteQuality
SIO_000300: 1.959295e6

GenotypeQuality
all individuals: 24166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.235025318019019e-4
allele num: 16194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
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: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 3.515e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.605795e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.169e1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 2554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6822
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567987957852484e-5
allele num: 63776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.364e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 8.32e0

DP
type: SiteQuality
SIO_000300: 1.610502e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1896
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2119
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variant carriers: 0

GenotypeQuality
all individuals: 29624
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1667488899852e-5
allele num: 16216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64026
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e0

FS
type: SiteQuality
SIO_000300: 2.818e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

DP
type: SiteQuality
SIO_000300: 1.629599e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

QD
type: SiteQuality
SIO_000300: 1.487e1

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.759324419422942e-4
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.673625175260944e-5
allele num: 64190
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 3.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.641714e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
all individuals: 2114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5017
bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.326424870466321e-4
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64414
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.653706e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
SIO_000300: 1.485e1

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
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variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5009
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variant carriers: 1

GenotypeQuality
all individuals: 1749
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variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 1230
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variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552168379225778e-5
allele num: 64426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.656492e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.418e0

GenotypeQuality
all individuals: 1760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5011
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7067
bin: 6.75e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223690651003426e-4
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 2.298e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.66324e6

VQSLOD
type: SiteQuality
SIO_000300: -9.926e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e0

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
all individuals: 527
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
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GenotypeQuality
all individuals: 1075
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 3.25e1
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GenotypeQuality
all individuals: 33813
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GenotypeQuality
all individuals: 2531
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
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
allele num: 9726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.665375e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -6.055e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.821e0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
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GenotypeQuality
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
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variant carriers: 0

GenotypeQuality
all individuals: 7175
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GenotypeQuality
all individuals: 1577
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GenotypeQuality
all individuals: 35387
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GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535673700052213e-5
allele num: 65118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.568e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.338e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: -2.997e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

DP
type: SiteQuality
SIO_000300: 1.678327e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.687098e6

QD
type: SiteQuality
SIO_000300: 1.649e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele frequency: 1.004217714400482e-4
allele num: 9958
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.11e0

FS
type: SiteQuality
SIO_000300: 5.029e0

QD
type: SiteQuality
SIO_000300: 1.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.705439e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5011
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.575068933127291e-5
allele num: 66006
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
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: 6570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.70642e6

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

QD
type: SiteQuality
SIO_000300: 1.213e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1066
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.651162790697675e-4
allele num: 8600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.173e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

QD
type: SiteQuality
SIO_000300: 1.023e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 1.708237e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513958699206686e-5
allele num: 66052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.013e1

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

DP
type: SiteQuality
SIO_000300: 1.709423e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.147e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
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: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.847016055740685e-4
allele num: 66020
num of homozygotes: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
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QD
type: SiteQuality
SIO_000300: 1.508e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

FS
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.711392e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.791e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.004419445560466e-4
allele num: 9956
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.032324580023046e-5
allele num: 65956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.057e1

FS
type: SiteQuality
SIO_000300: 1.4986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37893
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.006036217303823e-4
allele num: 9940
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.936e0

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
SIO_000300: 1.709728e6

QD
type: SiteQuality
SIO_000300: 1.169e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.863e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5000
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 7.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.826372823572385e-4
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516346212167162e-5
allele num: 65948
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 4.99e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 1.709522e6

QD
type: SiteQuality
SIO_000300: 1.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 7.75e1
variant carriers: 0