8-26151149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151149
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151149
    reference: chr 8
allele count: 4
allele frequency: 3.357563751741736e-5
allele num: 119134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-470-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.152-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.326-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.151-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.62C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-470-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.38-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.330-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.44C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.162-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.8-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.8-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.8-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.324-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-470-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.8-33C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+1980C>T
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-26151157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151157
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151157
    reference: chr 8
allele count: 1
allele frequency: 8.353939717970996e-6
allele num: 119704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-470-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.38-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.8-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.52T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-470-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.162-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.8-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.151-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+1988T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.8-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.70T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.324-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.152-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.330-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.8-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-470-25T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.326-25T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

8-26151159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151159
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151159
    reference: chr 8
allele count: 2
allele frequency: 1.668891855807744e-5
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.151-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.38-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-470-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.72A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-470-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.8-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.54A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.324-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.330-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.8-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+1990A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.326-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.8-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-470-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.8-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.162-23A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.152-23A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

8-26151161-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151161
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151161
    reference: chr 8
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-470-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.152-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.38-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.8-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.162-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.324-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.326-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-470-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.8-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.74T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-470-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.8-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.56T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.8-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.330-21T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+1992T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.151-21T>A
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-26151171-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151171
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151171
    reference: chr 8
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.8-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.326-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.66T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.8-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.8-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.330-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-470-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-470-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.152-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.8-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2002T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.84T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.38-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.151-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-470-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.324-11T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.162-11T>A
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-26151178-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151178
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151178
    reference: chr 8
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.8-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.324-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.38-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-470-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.8-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-470-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.73C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.91C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2009C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-470-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.330-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.8-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.162-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.8-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.151-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.326-4C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.152-4C>A
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.38-4C>A
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

8-26151197-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151197
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151197
    reference: chr 8
allele count: 2
allele frequency: 1.649947201689546e-5
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.23A>G
  hgvsp: ENSP00000428164.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.23A>G
  hgvsp: ENSP00000428542.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.23A>G
  hgvsp: ENSP00000370113.3:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.110A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.339A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.92A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-455A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-455A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-455A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.53A>G
  hgvsp: ENSP00000325074.7:p.Asn18Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.23A>G
  hgvsp: ENSP00000429279.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.341A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.177A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.167A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.345A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2028A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.166A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn18Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

8-26151202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151202
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151202
    reference: chr 8
allele count: 4
allele frequency: 3.299132328197684e-5
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.350A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-450A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.28A>G
  hgvsp: ENSP00000428164.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.346A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.115A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.28A>G
  hgvsp: ENSP00000428542.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.28A>G
  hgvsp: ENSP00000429279.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.97A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-450A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.28A>G
  hgvsp: ENSP00000370113.3:p.Ile10Val
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.58A>G
  hgvsp: ENSP00000325074.7:p.Ile20Val
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-450A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2033A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.344A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.182A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.172A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.171A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile20Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

8-26151203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151203
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151203
    reference: chr 8
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.183T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.172T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-449T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.59T>C
  hgvsp: ENSP00000325074.7:p.Ile20Thr
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.29T>C
  hgvsp: ENSP00000429279.1:p.Ile10Thr
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.29T>C
  hgvsp: ENSP00000370113.3:p.Ile10Thr
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.29T>C
  hgvsp: ENSP00000428164.1:p.Ile10Thr
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2034T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.345T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.116T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-449T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-449T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.29T>C
  hgvsp: ENSP00000428542.1:p.Ile10Thr
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.98T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.351T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.173T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.347T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile20Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

8-26151203-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151203
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151203
    reference: chr 8
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.29T>G
  hgvsp: ENSP00000370113.3:p.Ile10Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.183T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-449T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.345T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.29T>G
  hgvsp: ENSP00000429279.1:p.Ile10Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.172T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.59T>G
  hgvsp: ENSP00000325074.7:p.Ile20Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.98T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.351T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.347T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.29T>G
  hgvsp: ENSP00000428164.1:p.Ile10Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-449T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-449T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.173T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.29T>G
  hgvsp: ENSP00000428542.1:p.Ile10Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2034T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.116T>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile20Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-26151213-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151213
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151213
    reference: chr 8
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.182T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.39T>G
  hgvsp: ENSP00000429279.1:p.Cys13Trp
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.39T>G
  hgvsp: ENSP00000370113.3:p.Cys13Trp
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.357T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.355T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.69T>G
  hgvsp: ENSP00000325074.7:p.Cys23Trp
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-439T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2044T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.193T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.108T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.361T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-439T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.126T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.39T>G
  hgvsp: ENSP00000428542.1:p.Cys13Trp
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.183T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-439T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.39T>G
  hgvsp: ENSP00000428164.1:p.Cys13Trp
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys23Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

8-26151226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151226
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151226
    reference: chr 8
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.52A>G
  hgvsp: ENSP00000370113.3:p.Lys18Glu
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.139A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-426A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.196A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2057A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.121A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-426A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.52A>G
  hgvsp: ENSP00000428164.1:p.Lys18Glu
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.52A>G
  hgvsp: ENSP00000428542.1:p.Lys18Glu
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.370A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.82A>G
  hgvsp: ENSP00000325074.7:p.Lys28Glu
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-426A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.368A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.206A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.374A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.52A>G
  hgvsp: ENSP00000429279.1:p.Lys18Glu
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.195A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys28Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

8-26151262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151262
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151262
    reference: chr 8
allele count: 1
allele frequency: 8.354358468813179e-6
allele num: 119698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.88A>G
  hgvsp: ENSP00000428164.1:p.Lys30Glu
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2093A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+6A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+6A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys30Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

8-26151266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151266
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151266
    reference: chr 8
allele count: 5
allele frequency: 4.193716135742204e-5
allele num: 119226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.92C>G
  hgvsp: ENSP00000428164.1:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+10C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2097C>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala31Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

8-26151267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151267
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151267
    reference: chr 8
allele count: 48
allele frequency: 4.036055428494551e-4
allele num: 118928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2098G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.93G>A
  hgvsp: ENST00000518254.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+11G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+11G>A
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25383
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala31Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

8-26151275-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151275
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151275
    reference: chr 8
allele count: 1
allele frequency: 8.574417368339821e-6
allele num: 116626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.101C>G
  hgvsp: ENSP00000428164.1:p.Ala34Gly
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2106C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+19C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+19C>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala34Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

8-26151282-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151282
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151282
    reference: chr 8
allele count: 163
allele frequency: 1.4382268339598e-3
allele num: 113334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.108T>G
  hgvsp: ENSP00000428164.1:p.Phe36Leu
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+26T>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2113T>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22206
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 21048
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Phe36Leu
num of homozygotes: 2
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-26151285-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151285
    reference: chr 8
allele count: 1
allele frequency: 8.989248858365394e-6
allele num: 111244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2116A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.111A>G
  hgvsp: ENST00000518254.1:c.111A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+29A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+29A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly37Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

8-26151289-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151289
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151289
    reference: chr 8
allele count: 1
allele frequency: 9.268184177355972e-6
allele num: 107896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.115A>G
  hgvsp: ENSP00000428164.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2120A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+33A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+33A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-26151289-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151289
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151288
    reference: chr 8
allele count: 1
allele frequency: 9.268184177355972e-6
allele num: 107896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2121delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.116delT
  hgvsp: ENSP00000428164.1:p.Ile39LysfsTer23
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+34delT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+34delT
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39LysfsTer23
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: AT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

8-26151291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151291
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151291
    reference: chr 8
allele count: 2
allele frequency: 1.882955486932289e-5
allele num: 106216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.117A>G
  hgvsp: ENSP00000428164.1:p.Ile39Met
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2122A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+35A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+35A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19751
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ile39Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

8-26151299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151299
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151299
    reference: chr 8
allele count: 1
allele frequency: 1.023457649322471e-5
allele num: 97708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.125C>G
  hgvsp: ENSP00000428164.1:p.Ala42Gly
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2130C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+43C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+43C>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala42Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

8-26151313-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151313
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151313
    reference: chr 8
allele count: 553
allele frequency: 6.713120326308633e-3
allele num: 82376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.139A>G
  hgvsp: ENSP00000428164.1:p.Thr47Ala
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+57A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2144A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17197
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 16166
  bin: 1.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr47Ala
num of homozygotes: 3
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-26151313-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151313
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151313
    reference: chr 8
allele count: 1
allele frequency: 1.213945809459066e-5
allele num: 82376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.139A>T
  hgvsp: ENSP00000428164.1:p.Thr47Ser
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2144A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+57A>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+57A>T
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr47Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-26151314-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151314
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151315
    reference: chr 8
allele count: 1
allele frequency: 1.230981338322911e-5
allele num: 81236
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.141dupT
  hgvsp: ENSP00000428164.1:p.Gly48TrpfsTer11
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2146dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+59dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+59dupT
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly48TrpfsTer11
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-26151315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151315
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151315
    reference: chr 8
allele count: 1
allele frequency: 1.243100790612103e-5
allele num: 80444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.141T>C
  hgvsp: ENST00000518254.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+59T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2146T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+59T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr47Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

8-26151316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151316
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151316
    reference: chr 8
allele count: 1
allele frequency: 1.261861498081971e-5
allele num: 79248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.142G>A
  hgvsp: ENSP00000428164.1:p.Gly48Arg
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+60G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2147G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+60G>A
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly48Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

8-26151334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151334
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151334
    reference: chr 8
allele count: 5
allele frequency: 8.425735566714975e-5
allele num: 59342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2165C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+78C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+78C>T
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18096
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-26151335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151335
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151335
    reference: chr 8
allele count: 1
allele frequency: 1.727056060239715e-5
allele num: 57902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2166G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+79G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+79G>A
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

8-26151339-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151339
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151339
    reference: chr 8
allele count: 1
allele frequency: 1.84945441094877e-5
allele num: 54070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+83C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2170C>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

8-26151343-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151343
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151344
    reference: chr 8
allele count: 1
allele frequency: 1.983812093318521e-5
allele num: 50408
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*14dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2175dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+88dupA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+88dupA
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

8-26151344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151344
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151344
    reference: chr 8
allele count: 3
allele frequency: 6.017812725667977e-5
allele num: 49852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*14A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2175A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+88A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+88A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22234
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

8-26151345-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151345
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151345
    reference: chr 8
allele count: 1
allele frequency: 2.040649742878132e-5
allele num: 49004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*15T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2176T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+89T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+89T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-26151357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151357
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151357
    reference: chr 8
allele count: 1
allele frequency: 2.378347524140227e-5
allele num: 42046
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2188G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+101G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+101G>A
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

8-26151357-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151357
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151357
    reference: chr 8
allele count: 1
allele frequency: 2.378347524140227e-5
allele num: 42046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*27G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+101G>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2188G>T
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-26151358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151358
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151358
    reference: chr 8
allele count: 1
allele frequency: 2.403383964622188e-5
allele num: 41608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2189A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+102A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+102A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

8-26151360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26151360
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26151360
    reference: chr 8
allele count: 15
allele frequency: 3.672510038194104e-4
allele num: 40844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.82+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.151+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.404+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.225+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.169+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.236+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.398+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-396+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.82+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*30T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-396+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-78+2191T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.82+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-396+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.112+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.226+104T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.400+104T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-26190972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26190972
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26190972
    reference: chr 8
allele count: 1
allele frequency: 9.735202492211838e-5
allele num: 10272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.401-30C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.83-30C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.35-30C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-27645C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-5434C>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-5434C>A
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-26190981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26190981
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26190981
    reference: chr 8
allele count: 2
allele frequency: 1.931247585940518e-4
allele num: 10356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.35-21A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.401-21A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-27636A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.83-21A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-5425A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-5425A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

8-26191003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26191003
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26191003
    reference: chr 8
allele count: 2
allele frequency: 1.913143294432753e-4
allele num: 10454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.36T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.402T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-27614T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.84T>C
  hgvsp: ENST00000520329.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-5403T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-5403T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.84T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-26191019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26191019
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26191019
    reference: chr 8
allele count: 2
allele frequency: 1.916075876604714e-4
allele num: 10438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-27598T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.100T>C
  hgvsp: ENSP00000428542.1:p.Ter34GlnextTer31
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.418T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.52T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-5387T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-5387T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter34GlnextTer31
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-26196355-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196355
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196356
    reference: chr 8
allele count: 2
allele frequency: 1.766940542450747e-5
allele num: 113190
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-50dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22261dupG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-50dupG
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

8-26196358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196358
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196358
    reference: chr 8
allele count: 1
allele frequency: 8.881467929019309e-6
allele num: 112594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-48C>T
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22259C>T
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

8-26196359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196359
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196359
    reference: chr 8
allele count: 16
allele frequency: 1.41597932670183e-4
allele num: 112996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22258G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-47G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-47G>A
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-26196364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196364
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196364
    reference: chr 8
allele count: 1
allele frequency: 8.755034144633164e-6
allele num: 114220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22253A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-42A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-42A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-26196371-CTAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196371
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196368
    reference: chr 8
allele count: 1
allele frequency: 8.675585168219596e-6
allele num: 115266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-32_152-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-32_120-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-32_-395-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-32_227-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-32_237-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22243_-77-22241delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-32_*66-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-32_399-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-32_*47-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-32_83-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-32_-395-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-32_83-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-32_-395-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-32_226-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-32_486-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-32_405-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-32_170-30delATA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-32_113-30delATA
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: CTAA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

8-26196376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196376
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196376
    reference: chr 8
allele count: 6
allele frequency: 5.163511187607573e-5
allele num: 116200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22241A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-30A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-30A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-26196378-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196378
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196379
    reference: chr 8
allele count: 3
allele frequency: 2.576788291074005e-5
allele num: 116424
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22232dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-21dupT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-21dupT
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-26196381-TTTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196381
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196376
    reference: chr 8
allele count: 1
allele frequency: 8.536064874093044e-6
allele num: 117150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-18_83-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-18_399-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-18_*66-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-18_226-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-18_*47-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-18_486-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-18_405-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-18_-395-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-18_-395-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-18_152-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-18_113-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-18_120-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-18_-395-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-18_227-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-18_237-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-18_170-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-18_83-14delTTTGT
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: TTTTTG
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-26196382-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196382
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196378
    reference: chr 8
allele count: 1
allele frequency: 8.521516829995738e-6
allele num: 117350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-20_-395-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-20_83-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-20_405-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-20_170-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-20_113-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-20_*66-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-20_*47-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-20_120-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-20_486-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-20_-395-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-20_237-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-20_227-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-20_399-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-20_83-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-20_152-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-20_-395-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22231_-77-22228delGTTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-20_226-17delGTTT
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TTTTG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

8-26196383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196383
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196383
    reference: chr 8
allele count: 9
allele frequency: 7.65566519224226e-5
allele num: 117560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22234T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-23T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-23T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12838
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

8-26196383-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196383
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196380
    reference: chr 8
allele count: 2
allele frequency: 1.701258931609391e-5
allele num: 117560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-20_83-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-20_227-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-20_*47-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-20_-395-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-20_399-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-20_*66-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-20_405-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22231_-77-22229delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-20_237-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-20_83-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-20_-395-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-20_-395-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-20_113-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-20_226-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-20_120-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-20_170-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-20_152-18delGTT
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-20_486-18delGTT
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: TTTG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

8-26196386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196386
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196386
    reference: chr 8
allele count: 1
allele frequency: 8.460809530255856e-6
allele num: 118192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22231G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-20G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-20G>A
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

8-26196394-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196394
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196394
    reference: chr 8
allele count: 1
allele frequency: 8.371703641691085e-6
allele num: 119450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22223T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-12T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-12T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-26196395-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196395
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196395
    reference: chr 8
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22222C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-11C>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-11C>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

8-26196397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196397
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196397
    reference: chr 8
allele count: 1
allele frequency: 8.344598541364175e-6
allele num: 119838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-9A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22220A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-9A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

8-26196401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196401
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196401
    reference: chr 8
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*47-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.120-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.399-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.227-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.226-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.405-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22216T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.83-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-395-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.486-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*66-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.237-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-395-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.113-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-395-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.152-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.83-5T>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.170-5T>C
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.113-5T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

8-26196470-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196470
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196470
    reference: chr 8
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-331T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.234T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.177T>A
  hgvsp: ENST00000315985.7:c.177T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*130T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.147T>A
  hgvsp: ENST00000380737.3:c.147T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.301T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-331T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.550T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.290T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22147T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-331T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*111T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.184T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.147T>A
  hgvsp: ENST00000518397.1:c.147T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.216T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.291T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.463T>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.469T>A
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly59Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-26196492-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196492
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196489
    reference: chr 8
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.172_174delGAG
  hgvsp: ENSP00000370113.3:p.Glu58del
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.241_243delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22122_-77-22120delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.315_317delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-306_-304delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.202_204delGAG
  hgvsp: ENSP00000325074.7:p.Glu68del
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-306_-304delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.316_318delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.172_174delGAG
  hgvsp: ENSP00000429279.1:p.Glu58del
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.209_211delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*155_*157delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.326_328delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-306_-304delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.259_261delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.575_577delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.494_496delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*136_*138delGAG
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.488_490delGAG
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu68del
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CAGG
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

8-26196500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196500
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196500
    reference: chr 8
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.207G>A
  hgvsp: ENST00000315985.7:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.177G>A
  hgvsp: ENST00000380737.3:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.264G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.214G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22117G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-301G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-301G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.499G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.331G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.177G>A
  hgvsp: ENST00000518397.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.493G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-301G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.246G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.320G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.580G>A
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.321G>A
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln69Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-26196501-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196501
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196501
    reference: chr 8
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.321G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.208G>C
  hgvsp: ENSP00000325074.7:p.Glu70Gln
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*142G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.247G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.215G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-300G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.500G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*161G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22116G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.581G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.178G>C
  hgvsp: ENSP00000370113.3:p.Glu60Gln
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.178G>C
  hgvsp: ENSP00000429279.1:p.Glu60Gln
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-300G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.322G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-300G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.332G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.265G>C
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.494G>C
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu70Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

8-26196506-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196506
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196506
    reference: chr 8
allele count: 3
allele frequency: 2.4786833234186e-5
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000430320
  ensembl transcript: ENST00000524169
  gene symbol: PPP2R2A
  hgvsc: ENST00000524169.1:c.-77-22111A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*144+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522482
  gene symbol: PPP2R2A
  hgvsc: ENST00000522482.1:n.323+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-298+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.217+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523473
  gene symbol: PPP2R2A
  hgvsc: ENST00000523473.1:n.583+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.180+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.502+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428542
  ensembl transcript: ENST00000520329
  gene symbol: PPP2R2A
  hgvsc: ENST00000520329.1:c.*163+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000429279
  ensembl transcript: ENST00000518397
  gene symbol: PPP2R2A
  hgvsc: ENST00000518397.1:c.180+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.249+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-298+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.496+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519636
  gene symbol: PPP2R2A
  hgvsc: ENST00000519636.1:n.324+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000519439
  gene symbol: PPP2R2A
  hgvsc: ENST00000519439.1:n.267+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000524099
  gene symbol: PPP2R2A
  hgvsc: ENST00000524099.1:n.334+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000325074
  ensembl transcript: ENST00000315985
  gene symbol: PPP2R2A
  hgvsc: ENST00000315985.7:c.210+3A>G
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-298+3A>G
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.210+3A>G
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

8-26196513-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26196513
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 26196511
    reference: chr 8
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521484
  gene symbol: PPP2R2A
  hgvsc: ENST00000521484.1:n.249+12_249+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000370113
  ensembl transcript: ENST00000380737
  gene symbol: PPP2R2A
  hgvsc: ENST00000380737.3:c.180+12_180+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428800
  ensembl transcript: ENST00000523925
  gene symbol: PPP2R2A
  hgvsc: ENST00000523925.1:c.-298+12_-298+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428165
  ensembl transcript: ENST00000521557
  gene symbol: PPP2R2A
  hgvsc: ENST00000521557.1:c.-298+12_-298+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000521095
  gene symbol: PPP2R2A
  hgvsc: ENST00000521095.1:n.496+12_496+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428164
  ensembl transcript: ENST00000518254
  gene symbol: PPP2R2A
  hgvsc: ENST00000518254.1:c.*144+12_*144+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000522150
  gene symbol: PPP2R2A
  hgvsc: ENST00000522150.1:n.502+12_502+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl protein: ENSP00000428705
  ensembl transcript: ENST00000522535
  gene symbol: PPP2R2A
  hgvsc: ENST00000522535.1:c.-298+12_-298+13delAA
  variant of: http://identifiers.org/hgnc/9304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221914
  ensembl transcript: ENST00000523964
  gene symbol: PPP2R2A
  hgvsc: ENST00000523964.1:n.217+12_217+13delAA
  variant of: http://identifiers.org/hgnc/9304
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
num of homozygotes: 0
reference allele: TAA

GenotypeDepth
all individuals: 88
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1613
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21825
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 93
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 595
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 1.530502923260583e-5
allele num: 65338
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: 8.712319219376198e-5
allele num: 11478
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South Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 1.939111886755866e-4
allele num: 10314
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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

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

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

European (Non-Finnish)
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allele frequency: 1.500915558490679e-5
allele num: 66626
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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African
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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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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

QD
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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SIO_000300: 1.623929e6

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.52699731248473e-5
allele num: 65488
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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SIO_000300: 4.159e0

DP
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SIO_000300: 1.604144e6

ReadPosRankSum
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SIO_000300: -6.44e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

South Asian
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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: 10232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.672948253636978e-5
allele num: 65164
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

Other
type: Population
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: 8578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.23e1

DP
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FS
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: -2.55e-1

InbreedingCoeff
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SIO_000300: -8.0e-4

BaseQRankSum
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SIO_000300: 3.13e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 41
allele frequency: 4.010172143974961e-3
allele num: 10224
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.617801047120419e-4
allele num: 11460
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.617657923900997e-5
allele num: 64968
num of homozygotes: 0

East Asian
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allele frequency: 1.169043722235212e-4
allele num: 8554
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
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InbreedingCoeff
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SIO_000300: -1.1e-3

ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6450
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.200192030724916e-4
allele num: 8332
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 155
allele frequency: 1.595635165740169e-2
allele num: 9714
num of homozygotes: 2

Other
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allele frequency: 1.179245283018868e-3
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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Latino
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allele count: 6
allele frequency: 5.396654074473826e-4
allele num: 11118
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.616762594580612e-5
allele num: 61852
num of homozygotes: 0

QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
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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African
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele num: 10920
num of homozygotes: 0

ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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SIO_000300: 5.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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 (Non-Finnish)
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allele count: 1
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allele num: 58944
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 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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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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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: 9216
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.696525515743757e-5
allele num: 58944
num of homozygotes: 0

VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 6.072e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 2
allele frequency: 1.914975105323631e-4
allele num: 10444
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58000
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9068
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

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.400255e6

MQ
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14030
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073883161512027e-4
allele num: 9312
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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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ReadPosRankSum
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SIO_000300: -9.96e-1

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

African
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allele count: 4
allele frequency: 5.580357142857143e-4
allele num: 7168
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 2.685284640171858e-3
allele num: 7448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 300
allele frequency: 6.737333812432626e-3
allele num: 44528
num of homozygotes: 2

East Asian
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allele count: 0
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South Asian
type: Population
allele count: 199
allele frequency: 1.563727801351564e-2
allele num: 12726
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 18
allele frequency: 3.683995088006549e-3
allele num: 4886
num of homozygotes: 0

Other
type: Population
allele count: 12
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allele num: 658
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DP
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VQSLOD
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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Other
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East Asian
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South Asian
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QD
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InbreedingCoeff
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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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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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Latino
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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DP
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FS
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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FS
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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Latino
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Other
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QD
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DP
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BaseQRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 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 frequency: 3.260089978483406e-5
allele num: 30674
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.496503496503497e-5
allele num: 28600
num of homozygotes: 0

East Asian
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European (Finnish)
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African
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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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Latino
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.288164665523156e-4
allele num: 2332
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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DP
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SIO_000300: 7.01759e5

MQRankSum
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 6.96e-1

InbreedingCoeff
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SIO_000300: 2.06e-2

MQ
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SIO_000300: 6.0e1

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele num: 26264
num of homozygotes: 0

East Asian
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Latino
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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MQ
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FS
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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Latino
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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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Other
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DP
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VQSLOD
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 21780
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South Asian
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Latino
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European (Finnish)
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East Asian
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African
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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South Asian
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African
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Other
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European (Finnish)
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allele num: 2866
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Other
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African
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European (Non-Finnish)
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South Asian
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FS
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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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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South Asian
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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GenotypeDepth
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South Asian
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Latino
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East Asian
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European (Finnish)
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MQ
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DP
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VQSLOD
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
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QD
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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FS
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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East Asian
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European (Non-Finnish)
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South Asian
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MQRankSum
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FS
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele num: 64202
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South Asian
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Latino
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European (Finnish)
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African
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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FS
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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East Asian
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Other
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Latino
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African
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European (Finnish)
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FS
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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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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European (Finnish)
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African
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East Asian
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VQSLOD
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QD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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VQSLOD
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MQ
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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South Asian
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Other
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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East Asian
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Other
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European (Finnish)
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South Asian
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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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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East Asian
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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Latino
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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DP
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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South Asian
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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DP
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DP
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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GenotypeQuality
all individuals: 1800
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9916
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4653
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507211538461539e-5
allele num: 66560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.485e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

QD
type: SiteQuality
SIO_000300: 1.388e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.770913e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0