9-21971160-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971160
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971160
    reference: chr 9
allele count: 1
allele frequency: 1.232893601282209e-5
allele num: 81110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.45C>G
  hgvsp: ENSP00000466887.1:p.His15Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.172C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.198C>G
  hgvsp: ENSP00000464202.1:p.His66Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.45C>G
  hgvsp: ENSP00000467857.1:p.His15Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.198C>G
  hgvsp: ENSP00000307101.5:p.His66Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.198C>G
  hgvsp: ENSP00000418915.1:p.His66Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.45C>G
  hgvsp: ENSP00000468510.1:p.His15Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.364C>G
  hgvsp: ENSP00000355153.3:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.241C>G
  hgvsp: ENSP00000462950.1:p.Arg81Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.241C>G
  hgvsp: ENSP00000432664.2:p.Arg81Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.45C>G
  hgvsp: ENSP00000467390.1:p.His15Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*121C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58272G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.45C>G
  hgvsp: ENSP00000464952.1:p.His15Gln
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.198C>G
  hgvsp: ENSP00000394932.1:p.His66Gln
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14595
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His66Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

9-21971161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971161
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971161
    reference: chr 9
allele count: 7
allele frequency: 8.6164451009355e-5
allele num: 81240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.240A>G
  hgvsp: ENST00000530628.2:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.44A>G
  hgvsp: ENSP00000466887.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.44A>G
  hgvsp: ENSP00000467857.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.363A>G
  hgvsp: ENST00000361570.3:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.44A>G
  hgvsp: ENSP00000464952.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.171A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.197A>G
  hgvsp: ENSP00000464202.1:p.His66Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.44A>G
  hgvsp: ENSP00000467390.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*120A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.44A>G
  hgvsp: ENSP00000468510.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58271T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.197A>G
  hgvsp: ENSP00000418915.1:p.His66Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.197A>G
  hgvsp: ENSP00000394932.1:p.His66Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.240A>G
  hgvsp: ENST00000579755.1:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.197A>G
  hgvsp: ENSP00000307101.5:p.His66Arg
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14541
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His66Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

9-21971163-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971163
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971163
    reference: chr 9
allele count: 1
allele frequency: 1.229074998156387e-5
allele num: 81362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.195C>G
  hgvsp: ENST00000579122.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58269G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.195C>G
  hgvsp: ENST00000498124.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*118C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.42C>G
  hgvsp: ENST00000498628.2:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.42C>G
  hgvsp: ENST00000479692.2:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.42C>G
  hgvsp: ENST00000497750.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.238C>G
  hgvsp: ENSP00000462950.1:p.Pro80Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.238C>G
  hgvsp: ENSP00000432664.2:p.Pro80Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.195C>G
  hgvsp: ENST00000446177.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.361C>G
  hgvsp: ENSP00000355153.3:p.Pro121Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.169C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.195C>G
  hgvsp: ENST00000304494.5:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.42C>G
  hgvsp: ENST00000494262.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.42C>G
  hgvsp: ENST00000578845.2:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro121Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

9-21971172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971172
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971172
    reference: chr 9
allele count: 1
allele frequency: 1.236705416769725e-5
allele num: 80860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.33G>A
  hgvsp: ENST00000494262.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.33G>A
  hgvsp: ENST00000497750.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.33G>A
  hgvsp: ENST00000479692.2:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.186G>A
  hgvsp: ENST00000304494.5:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58260C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.186G>A
  hgvsp: ENST00000498124.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.229G>A
  hgvsp: ENSP00000432664.2:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.229G>A
  hgvsp: ENSP00000462950.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.186G>A
  hgvsp: ENST00000446177.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.352G>A
  hgvsp: ENSP00000355153.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.33G>A
  hgvsp: ENST00000498628.2:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.160G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.33G>A
  hgvsp: ENST00000578845.2:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.186G>A
  hgvsp: ENST00000579122.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*109G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala118Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-21971180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971180
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971180
    reference: chr 9
allele count: 1
allele frequency: 1.206884066716551e-5
allele num: 82858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.152G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.25G>A
  hgvsp: ENSP00000467857.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.178G>A
  hgvsp: ENSP00000418915.1:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.178G>A
  hgvsp: ENSP00000307101.5:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.25G>A
  hgvsp: ENSP00000468510.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.178G>A
  hgvsp: ENSP00000464202.1:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.25G>A
  hgvsp: ENSP00000466887.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.25G>A
  hgvsp: ENSP00000467390.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*101G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.178G>A
  hgvsp: ENSP00000394932.1:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.221G>A
  hgvsp: ENSP00000462950.1:p.Gly74Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58252C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.344G>A
  hgvsp: ENSP00000355153.3:p.Gly115Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.25G>A
  hgvsp: ENSP00000464952.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.221G>A
  hgvsp: ENSP00000432664.2:p.Gly74Asp
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala60Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/9-21971182-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971182
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971182
    reference: chr 9
allele count: 1
allele frequency: 1.204383957605685e-5
allele num: 83030
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.23T>G
  hgvsp: ENSP00000466887.1:p.Val8Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.219T>G
  hgvsp: ENSP00000462950.1:p.Ser73Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.219T>G
  hgvsp: ENSP00000432664.2:p.Ser73Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.23T>G
  hgvsp: ENSP00000467857.1:p.Val8Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.342T>G
  hgvsp: ENSP00000355153.3:p.Ser114Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.176T>G
  hgvsp: ENSP00000394932.1:p.Val59Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.23T>G
  hgvsp: ENSP00000467390.1:p.Val8Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.176T>G
  hgvsp: ENSP00000464202.1:p.Val59Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.176T>G
  hgvsp: ENSP00000418915.1:p.Val59Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.176T>G
  hgvsp: ENSP00000307101.5:p.Val59Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.23T>G
  hgvsp: ENSP00000468510.1:p.Val8Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*99T>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.23T>G
  hgvsp: ENSP00000464952.1:p.Val8Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: risk_factor
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58250A>C
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.150T>G
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val59Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

9-21971184-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971184
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971184
    reference: chr 9
allele count: 72
allele frequency: 8.649479829893564e-4
allele num: 83242
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.217A>C
  hgvsp: ENSP00000462950.1:p.Ser73Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.21A>C
  hgvsp: ENST00000479692.2:c.21A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.174A>C
  hgvsp: ENST00000498124.1:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.174A>C
  hgvsp: ENST00000579122.1:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58248T>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.340A>C
  hgvsp: ENSP00000355153.3:p.Ser114Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.21A>C
  hgvsp: ENST00000498628.2:c.21A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.21A>C
  hgvsp: ENST00000578845.2:c.21A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.217A>C
  hgvsp: ENSP00000432664.2:p.Ser73Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*97A>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.21A>C
  hgvsp: ENST00000497750.1:c.21A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.174A>C
  hgvsp: ENST00000446177.1:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.148A>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.21A>C
  hgvsp: ENST00000494262.1:c.21A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.174A>C
  hgvsp: ENST00000304494.5:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18901
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
hgvs: p.Ser114Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-21971188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971188
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971188
    reference: chr 9
allele count: 10
allele frequency: 1.192918833802548e-4
allele num: 83828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.17C>T
  hgvsp: ENSP00000467390.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.170C>T
  hgvsp: ENSP00000394932.1:p.Ala57Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.170C>T
  hgvsp: ENSP00000307101.5:p.Ala57Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.17C>T
  hgvsp: ENSP00000467857.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.170C>T
  hgvsp: ENSP00000464202.1:p.Ala57Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58244G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.213C>T
  hgvsp: ENST00000530628.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.17C>T
  hgvsp: ENSP00000466887.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.17C>T
  hgvsp: ENSP00000468510.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.144C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.170C>T
  hgvsp: ENSP00000418915.1:p.Ala57Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*93C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.213C>T
  hgvsp: ENST00000579755.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.17C>T
  hgvsp: ENSP00000464952.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.336C>T
  hgvsp: ENST00000361570.3:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20358
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala57Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

9-21971188-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971188
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971188
    reference: chr 9
allele count: 6
allele frequency: 7.157513002815288e-5
allele num: 83828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.336C>G
  hgvsp: ENST00000361570.3:c.336C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.170C>G
  hgvsp: ENSP00000307101.5:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.170C>G
  hgvsp: ENSP00000394932.1:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.17C>G
  hgvsp: ENSP00000466887.1:p.Ala6Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.17C>G
  hgvsp: ENSP00000468510.1:p.Ala6Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.17C>G
  hgvsp: ENSP00000467857.1:p.Ala6Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.213C>G
  hgvsp: ENST00000530628.2:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.170C>G
  hgvsp: ENSP00000464202.1:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*93C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.170C>G
  hgvsp: ENSP00000418915.1:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.17C>G
  hgvsp: ENSP00000467390.1:p.Ala6Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.213C>G
  hgvsp: ENST00000579755.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58244G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.17C>G
  hgvsp: ENSP00000464952.1:p.Ala6Gly
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.144C>G
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20358
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala57Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

9-21971188-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971188
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971188
    reference: chr 9
allele count: 1
allele frequency: 1.192918833802548e-5
allele num: 83828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.213C>A
  hgvsp: ENST00000579755.1:c.213C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.17C>A
  hgvsp: ENSP00000468510.1:p.Ala6Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.17C>A
  hgvsp: ENSP00000464952.1:p.Ala6Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.17C>A
  hgvsp: ENSP00000467857.1:p.Ala6Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.17C>A
  hgvsp: ENSP00000466887.1:p.Ala6Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.170C>A
  hgvsp: ENSP00000418915.1:p.Ala57Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58244G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.17C>A
  hgvsp: ENSP00000467390.1:p.Ala6Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.170C>A
  hgvsp: ENSP00000307101.5:p.Ala57Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.213C>A
  hgvsp: ENST00000530628.2:c.213C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*93C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.170C>A
  hgvsp: ENSP00000394932.1:p.Ala57Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.336C>A
  hgvsp: ENST00000361570.3:c.336C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.170C>A
  hgvsp: ENSP00000464202.1:p.Ala57Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.144C>A
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala57Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

9-21971190-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971190
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971190
    reference: chr 9
allele count: 1
allele frequency: 1.193801781152257e-5
allele num: 83766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.15C>A
  hgvsp: ENSP00000466887.1:p.Ser5Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.15C>A
  hgvsp: ENSP00000467857.1:p.Ser5Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.15C>A
  hgvsp: ENSP00000464952.1:p.Ser5Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.15C>A
  hgvsp: ENSP00000467390.1:p.Ser5Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.15C>A
  hgvsp: ENSP00000468510.1:p.Ser5Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.334C>A
  hgvsp: ENSP00000355153.3:p.Arg112Ser
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.168C>A
  hgvsp: ENSP00000418915.1:p.Ser56Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58242G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.168C>A
  hgvsp: ENSP00000464202.1:p.Ser56Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.142C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.211C>A
  hgvsp: ENSP00000432664.2:p.Arg71Ser
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*91C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.168C>A
  hgvsp: ENSP00000307101.5:p.Ser56Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.211C>A
  hgvsp: ENSP00000462950.1:p.Arg71Ser
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.168C>A
  hgvsp: ENSP00000394932.1:p.Ser56Arg
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser56Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

9-21971196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971196
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971196
    reference: chr 9
allele count: 1
allele frequency: 1.19095824500393e-5
allele num: 83966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.9G>A
  hgvsp: ENSP00000467857.1:p.Met3Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.328G>A
  hgvsp: ENSP00000355153.3:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58236C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.162G>A
  hgvsp: ENSP00000394932.1:p.Met54Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.162G>A
  hgvsp: ENSP00000464202.1:p.Met54Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.9G>A
  hgvsp: ENSP00000464952.1:p.Met3Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.9G>A
  hgvsp: ENSP00000468510.1:p.Met3Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.205G>A
  hgvsp: ENSP00000462950.1:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.9G>A
  hgvsp: ENSP00000466887.1:p.Met3Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.205G>A
  hgvsp: ENSP00000432664.2:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.162G>A
  hgvsp: ENSP00000418915.1:p.Met54Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.162G>A
  hgvsp: ENSP00000307101.5:p.Met54Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.136G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*85G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.9G>A
  hgvsp: ENSP00000467390.1:p.Met3Ile
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21296
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met54Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

9-21971198-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971198
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971198
    reference: chr 9
allele count: 1
allele frequency: 1.190816423740116e-5
allele num: 83976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.203A>C
  hgvsp: ENSP00000462950.1:p.Asp68Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.326A>C
  hgvsp: ENSP00000355153.3:p.Asp109Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.160A>C
  hgvsp: ENSP00000394932.1:p.Met54Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.7A>C
  hgvsp: ENSP00000467390.1:p.Met3Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58234T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.134A>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.7A>C
  hgvsp: ENSP00000466887.1:p.Met3Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.203A>C
  hgvsp: ENSP00000432664.2:p.Asp68Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.160A>C
  hgvsp: ENSP00000307101.5:p.Met54Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.7A>C
  hgvsp: ENSP00000464952.1:p.Met3Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.160A>C
  hgvsp: ENSP00000418915.1:p.Met54Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.7A>C
  hgvsp: ENSP00000467857.1:p.Met3Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.160A>C
  hgvsp: ENSP00000464202.1:p.Met54Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.7A>C
  hgvsp: ENSP00000468510.1:p.Met3Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*83A>C
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met54Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-21971199-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971199
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971199
    reference: chr 9
allele count: 2
allele frequency: 2.390857361449816e-5
allele num: 83652
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.159G>C
  hgvsp: ENSP00000394932.1:p.Met53Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: risk_factor
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58233C>G
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.6G>C
  hgvsp: ENSP00000467857.1:p.Met2Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.6G>C
  hgvsp: ENSP00000466887.1:p.Met2Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.159G>C
  hgvsp: ENSP00000464202.1:p.Met53Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.6G>C
  hgvsp: ENSP00000464952.1:p.Met2Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.202G>C
  hgvsp: ENSP00000462950.1:p.Asp68His
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.325G>C
  hgvsp: ENSP00000355153.3:p.Asp109His
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*82G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.202G>C
  hgvsp: ENSP00000432664.2:p.Asp68His
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.6G>C
  hgvsp: ENSP00000468510.1:p.Met2Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.6G>C
  hgvsp: ENSP00000467390.1:p.Met2Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.159G>C
  hgvsp: ENSP00000418915.1:p.Met53Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.133G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.159G>C
  hgvsp: ENSP00000307101.5:p.Met53Ile
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met53Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

9-21971203-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971203
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971203
    reference: chr 9
allele count: 1
allele frequency: 1.207496136012365e-5
allele num: 82816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.198T>C
  hgvsp: ENST00000579755.1:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.155T>C
  hgvsp: ENSP00000307101.5:p.Met52Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.2T>C
  hgvsp: ENSP00000466887.1:p.Met1?
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.2T>C
  hgvsp: ENSP00000468510.1:p.Met1?
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.2T>C
  hgvsp: ENSP00000467857.1:p.Met1?
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.2T>C
  hgvsp: ENSP00000464952.1:p.Met1?
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.155T>C
  hgvsp: ENSP00000394932.1:p.Met52Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.2T>C
  hgvsp: ENSP00000467390.1:p.Met1?
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.155T>C
  hgvsp: ENSP00000418915.1:p.Met52Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.155T>C
  hgvsp: ENSP00000464202.1:p.Met52Thr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.198T>C
  hgvsp: ENST00000530628.2:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.321T>C
  hgvsp: ENST00000361570.3:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58229A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.129T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*78T>C
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

9-21971207-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971207
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971207
    reference: chr 9
allele count: 2
allele frequency: 2.44104867451057e-5
allele num: 81932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317G>C
  hgvsp: ENSP00000355153.3:p.Gly106Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-3G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151G>C
  hgvsp: ENSP00000418915.1:p.Val51Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194G>C
  hgvsp: ENSP00000432664.2:p.Gly65Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.125G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151G>C
  hgvsp: ENSP00000464202.1:p.Val51Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151G>C
  hgvsp: ENSP00000307101.5:p.Val51Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194G>C
  hgvsp: ENSP00000462950.1:p.Gly65Ala
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151G>C
  hgvsp: ENSP00000394932.1:p.Val51Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58225C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val51Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

9-21971207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971207
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971207
    reference: chr 9
allele count: 1
allele frequency: 1.220524337255285e-5
allele num: 81932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.125G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317G>A
  hgvsp: ENSP00000355153.3:p.Gly106Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194G>A
  hgvsp: ENSP00000432664.2:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151G>A
  hgvsp: ENSP00000464202.1:p.Val51Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151G>A
  hgvsp: ENSP00000418915.1:p.Val51Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151G>A
  hgvsp: ENSP00000307101.5:p.Val51Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194G>A
  hgvsp: ENSP00000462950.1:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151G>A
  hgvsp: ENSP00000394932.1:p.Val51Ile
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58225C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val51Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

9-21971211-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971211
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971211
    reference: chr 9
allele count: 223
allele frequency: 2.778885455089223e-3
allele num: 80248
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-7G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58221C>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-4G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.121G>C
  variant of: http://identifiers.org/hgnc/1787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: c.151-4G>C
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

9-21971220-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971220
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971220
    reference: chr 9
allele count: 2
allele frequency: 2.564694416660255e-5
allele num: 77982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-16T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.112T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58212A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-13T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-13T>C
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-21971221-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971221
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971221
    reference: chr 9
allele count: 1
allele frequency: 1.308694969376538e-5
allele num: 76412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.111G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-17G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58211C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-14G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-14G>C
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

9-21971221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971221
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971221
    reference: chr 9
allele count: 15
allele frequency: 1.963042454064807e-4
allele num: 76412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58211C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.111G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-17G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-14G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-14G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16535
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-21971223-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971223
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971223
    reference: chr 9
allele count: 1
allele frequency: 1.309380401194155e-5
allele num: 76372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.109C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58209G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-19C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-16C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-16C>G
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

9-21971225-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971225
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971225
    reference: chr 9
allele count: 2
allele frequency: 2.628189965570711e-5
allele num: 76098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58207A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.107T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-21T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-18T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-18T>C
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

9-21971236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971236
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971236
    reference: chr 9
allele count: 1
allele frequency: 1.390395150301716e-5
allele num: 71922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58196C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.96G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-32G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-29G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-29G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20945
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

9-21971238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971238
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971238
    reference: chr 9
allele count: 1
allele frequency: 1.399501777367257e-5
allele num: 71454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58194G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-34C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.94C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-31C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-31C>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21049
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

9-21971243-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971243
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971243
    reference: chr 9
allele count: 2
allele frequency: 2.933497609199448e-5
allele num: 68178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.89C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-39C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58189G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-36C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-36C>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/9-21971248-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971248
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971248
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 63166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-44G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.84G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58184C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-41G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-41G>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19693
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

9-21971248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971248
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971248
    reference: chr 9
allele count: 1
allele frequency: 1.583130164962163e-5
allele num: 63166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-44G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.84G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-41G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58184C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-41G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-21971253-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971253
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971253
    reference: chr 9
allele count: 1
allele frequency: 1.651200422707308e-5
allele num: 60562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-49A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58179T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.79A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-46A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-46A>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17625
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-21971254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971254
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971254
    reference: chr 9
allele count: 3
allele frequency: 5.085262908092348e-5
allele num: 58994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.78C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58178G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-47C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-47C>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21757
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-21971256-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21971256
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21971256
    reference: chr 9
allele count: 1
allele frequency: 1.725863794829312e-5
allele num: 57942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.151-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147889
  ensembl transcript: ENST00000380150
  gene symbol: CDKN2A
  hgvsc: ENST00000380150.2:n.76G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-58176C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.151-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*74-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.151-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467390
  ensembl transcript: ENST00000578845
  gene symbol: CDKN2A
  hgvsc: ENST00000578845.2:c.-52G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.151-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000466887
  ensembl transcript: ENST00000479692
  gene symbol: CDKN2A
  hgvsc: ENST00000479692.2:c.-3-49G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000468510
  ensembl transcript: ENST00000497750
  gene symbol: CDKN2A
  hgvsc: ENST00000497750.1:c.-3-49G>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22044
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16878
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

9-21974425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974425
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974425
    reference: chr 9
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3218G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3218G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+252G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+252G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-55007C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3218G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3218G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*51G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+252G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+252G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3218G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-21974426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974426
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974426
    reference: chr 9
allele count: 1
allele frequency: 8.360085607276618e-6
allele num: 119616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+251G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3219G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3219G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3219G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+251G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*50G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3219G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+251G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-55006C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+251G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3219G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

9-21974427-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974427
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974427
    reference: chr 9
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*49G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+250G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+250G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3220G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-55005C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3220G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3220G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+250G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+250G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3220G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3220G>C
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

9-21974433-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974433
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974433
    reference: chr 9
allele count: 1
allele frequency: 8.354777261638205e-6
allele num: 119692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3226G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3226G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+244G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3226G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*43G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+244G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54999C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3226G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+244G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3226G>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+244G>C
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

9-21974435-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974435
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974435
    reference: chr 9
allele count: 1
allele frequency: 8.349893956346754e-6
allele num: 119762
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54997G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3228C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+242C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*41C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+242C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+242C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3228C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3228C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3228C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3228C>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+242C>G
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5668
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

9-21974436-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974436
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974433
    reference: chr 9
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+238_150+240delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3232_317-3230delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3232_-3-3230delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54992_348-54990delTCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3232_194-3230delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*37_*39delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+238_150+240delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+238_150+240delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3232_194-3230delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3232_-3-3230delAGA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+238_150+240delAGA
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: ATCT
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-21974437-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974437
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974437
    reference: chr 9
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3230A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3230A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*39A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+240A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3230A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3230A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+240A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+240A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+240A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54995T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3230A>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/9-21974438-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974438
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974438
    reference: chr 9
allele count: 80
allele frequency: 6.678688305616777e-4
allele num: 119784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3231G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+239G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+239G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3231G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3231G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54994C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+239G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*38G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+239G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3231G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3231G>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19569
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14983
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

9-21974438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974438
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974438
    reference: chr 9
allele count: 1
allele frequency: 8.348360382020972e-6
allele num: 119784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3231G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3231G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+239G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3231G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*38G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+239G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+239G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3231G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3231G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+239G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54994C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10962
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

9-21974439-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974439
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974439
    reference: chr 9
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3232A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+238A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3232A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54993T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+238A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3232A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3232A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+238A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+238A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*37A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3232A>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-21974439-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974439
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974439
    reference: chr 9
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+238A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*37A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54993T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+238A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3232A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3232A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3232A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3232A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+238A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3232A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+238A>G
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-21974450-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974450
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974450
    reference: chr 9
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+227G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3243G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+227G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+227G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3243G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3243G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3243G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54982C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*26G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3243G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+227G>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS

9-21974450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974450
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974450
    reference: chr 9
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*26G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+227G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3243G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+227G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3243G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3243G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3243G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3243G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+227G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+227G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54982C>T
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

9-21974450-CGAGAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974450
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974444
    reference: chr 9
allele count: 317
allele frequency: 2.643252618237609e-3
allele num: 119928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*20_*25delTCTCTC
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+221_150+226delTCTCTC
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+221_150+226delTCTCTC
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+221_150+226delTCTCTC
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+221_150+226delTCTCTC
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 19662
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 5767
  bin: 9.75e1
  variant carriers: 312
genotype quality: GenotypeQuality
  all individuals: 33563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 5
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: CGAGAGA
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-21974458-CTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974458
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974455
    reference: chr 9
allele count: 318
allele frequency: 2.646515421361874e-3
allele num: 120158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+216_150+218delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54973_348-54971delTGT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+216_150+218delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3254_194-3252delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+216_150+218delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3254_317-3252delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*15_*17delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+216_150+218delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3254_-3-3252delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3254_-3-3252delACA
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3254_194-3252delACA
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14997
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 33875
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 5
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: CTGT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

9-21974460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974460
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974460
    reference: chr 9
allele count: 1
allele frequency: 8.351567589236499e-6
allele num: 119738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3253C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3253C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+217C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+217C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3253C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3253C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+217C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*16C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3253C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+217C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54972G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

9-21974461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974461
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974461
    reference: chr 9
allele count: 91
allele frequency: 7.599038011891242e-4
allele num: 119752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+216A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54971T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3254A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3254A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3254A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+216A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+216A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3254A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*15A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3254A>G
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+216A>G
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19780
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-21974462-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974462
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974461
    reference: chr 9
allele count: 318
allele frequency: 2.644710578842315e-3
allele num: 120240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3256delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+214delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3256delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54969delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3256delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*13delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3256delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+214delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+214delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+214delG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3256delG
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 19787
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 9.75e1
  variant carriers: 312
num of homozygotes: 5
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: AC
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/9-21974463-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974463
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974463
    reference: chr 9
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+214G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3256G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3256G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3256G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*13G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+214G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54969C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3256G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3256G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+214G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+214G>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

9-21974463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974463
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974463
    reference: chr 9
allele count: 3
allele frequency: 2.507983748265311e-5
allele num: 119618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3256G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3256G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*13G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+214G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3256G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+214G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+214G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+214G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54969C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3256G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3256G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-21974465-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974465
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974465
    reference: chr 9
allele count: 2
allele frequency: 1.661874927292972e-5
allele num: 120346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+212G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3258G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+212G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*11G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3258G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3258G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3258G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3258G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54967C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+212G>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+212G>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

9-21974466-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974466
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974466
    reference: chr 9
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3259C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3259C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3259C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54966G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*10C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3259C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+211C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+211C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+211C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+211C>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3259C>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-21974468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974468
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974468
    reference: chr 9
allele count: 2
allele frequency: 1.660743348722888e-5
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54964G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3261C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+209C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+209C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3261C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+209C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3261C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*8C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3261C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+209C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3261C>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

9-21974471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974471
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974471
    reference: chr 9
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3264C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3264C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+206C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3264C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+206C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3264C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3264C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*5C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54961G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+206C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+206C>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

9-21974475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974475
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974475
    reference: chr 9
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3268G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+202G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3268G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3268G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54957C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+202G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+202G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.*1G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3268G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3268G>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+202G>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum

9-21974479-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974479
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974479
    reference: chr 9
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3272A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+198A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+198A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3272A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+198A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3272A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3272A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.348A>T
  hgvsp: ENSP00000369496.3:p.Glu116Asp
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54953T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+198A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3272A>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu116Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

9-21974483-TCTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974483
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974479
    reference: chr 9
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3280_-3-3277delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3280_-3-3277delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54945_348-54942delCCTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+190_150+193delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3280_194-3277delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.340_343delGAAG
  hgvsp: ENSP00000369496.3:p.Glu114ArgfsTer14
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3280_317-3277delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+190_150+193delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3280_194-3277delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+190_150+193delGAAG
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+190_150+193delGAAG
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu114ArgfsTer14
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: TCTTC
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

9-21974501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974501
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974501
    reference: chr 9
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+176C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54931G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.326C>T
  hgvsp: ENSP00000369496.3:p.Ala109Val
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+176C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3294C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3294C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3294C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3294C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3294C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+176C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+176C>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala109Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-21974506-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974506
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974507
    reference: chr 9
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3300dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+170dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+170dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3300dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3300dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.320dupT
  hgvsp: ENSP00000369496.3:p.Ala109GlyfsTer24
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+170dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54925dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3300dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+170dupT
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3300dupT
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala109GlyfsTer24
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

9-21974507-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974507
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974507
    reference: chr 9
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3300T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+170T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+170T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3300T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54925A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3300T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+170T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.320T>C
  hgvsp: ENSP00000369496.3:p.Leu107Pro
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3300T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3300T>C
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+170T>C
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34582
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu107Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-21974519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974519
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974519
    reference: chr 9
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3312C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+158C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+158C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.308C>T
  hgvsp: ENSP00000369496.3:p.Pro103Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3312C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3312C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3312C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+158C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3312C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54913G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+158C>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro103Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

9-21974522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974522
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974522
    reference: chr 9
allele count: 3
allele frequency: 2.47610558114198e-5
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3315C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+155C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.305C>T
  hgvsp: ENSP00000369496.3:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+155C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3315C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3315C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3315C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+155C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+155C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3315C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54910G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro102Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

9-21974524-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974524
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974524
    reference: chr 9
allele count: 87
allele frequency: 7.178928606792752e-4
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.303T>A
  hgvsp: ENST00000380151.3:c.303T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3317T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3317T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3317T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+153T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+153T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+153T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54908A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3317T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+153T>A
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3317T>A
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15101
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20456
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro101Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

9-21974525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974525
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974525
    reference: chr 9
allele count: 16
allele frequency: 1.320110229204139e-4
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3318C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+152C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.302C>T
  hgvsp: ENSP00000369496.3:p.Pro101Leu
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+152C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3318C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+152C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54907G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3318C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3318C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3318C>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+152C>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15118
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro101Leu
num of homozygotes: 1
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

9-21974535-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21974535
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 21974535
    reference: chr 9
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464202
  ensembl transcript: ENST00000579122
  gene symbol: CDKN2A
  hgvsc: ENST00000579122.1:c.150+142A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000307101
  ensembl transcript: ENST00000304494
  gene symbol: CDKN2A
  hgvsc: ENST00000304494.5:c.150+142A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000432664
  ensembl transcript: ENST00000530628
  gene symbol: CDKN2A
  hgvsc: ENST00000530628.2:c.194-3328A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264545
  ensembl protein: ENSP00000385916
  ensembl transcript: ENST00000404796
  gene symbol: RP11-145E5.5
  hgvsc: ENST00000404796.2:c.348-54897T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000462950
  ensembl transcript: ENST00000579755
  gene symbol: CDKN2A
  hgvsc: ENST00000579755.1:c.194-3328A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000394932
  ensembl transcript: ENST00000446177
  gene symbol: CDKN2A
  hgvsc: ENST00000446177.1:c.150+142A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000467857
  ensembl transcript: ENST00000498628
  gene symbol: CDKN2A
  hgvsc: ENST00000498628.2:c.-3-3328A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000369496
  ensembl transcript: ENST00000380151
  gene symbol: CDKN2A
  hgvsc: ENST00000380151.3:c.292A>T
  hgvsp: ENSP00000369496.3:p.Asn98Tyr
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000418915
  ensembl transcript: ENST00000498124
  gene symbol: CDKN2A
  hgvsc: ENST00000498124.1:c.150+142A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000355153
  ensembl transcript: ENST00000361570
  gene symbol: CDKN2A
  hgvsc: ENST00000361570.3:c.317-3328A>T
  variant of: http://identifiers.org/hgnc/1787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147889
  ensembl protein: ENSP00000464952
  ensembl transcript: ENST00000494262
  gene symbol: CDKN2A
  hgvsc: ENST00000494262.1:c.-3-3328A>T
  variant of: http://identifiers.org/hgnc/1787
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn98Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD

GenotypeDepth
all individuals: 109
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4594
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3393
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 750
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4823
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4582
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.274795268425842e-5
allele num: 43960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.74e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

QD
type: SiteQuality
SIO_000300: 1.499e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 2.612e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.00207e6

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11014
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3417
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13924
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 109
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 750
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2868
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4771
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13648
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.167444963308873e-3
allele num: 5996
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 5.764e1

DP
type: SiteQuality
SIO_000300: 1.003187e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.639e-1

GenotypeDepth
all individuals: 3533
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14013
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 750
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19621
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.672240802675585e-4
allele num: 5980
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13656
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.01051e6

QD
type: SiteQuality
SIO_000300: 4.2e0

GenotypeDepth
all individuals: 14258
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4244
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 652
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13075
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1127
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43862
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.33783387144115e-5
allele num: 13628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3356
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.568e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.779e0

QD
type: SiteQuality
SIO_000300: 1.407e1

DP
type: SiteQuality
SIO_000300: 1.024656e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.799e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.948e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.916443081640475e-4
allele num: 5218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45138
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

VQSLOD
type: SiteQuality
SIO_000300: -9.612000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 2.017e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

MQ
type: SiteQuality
SIO_000300: 5.505e1

DP
type: SiteQuality
SIO_000300: 1.076243e6

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 393
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.150218541522889e-4
allele num: 8694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.083171e6

MQ
type: SiteQuality
SIO_000300: 5.781e1

VQSLOD
type: SiteQuality
SIO_000300: -1.214e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.398e1

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeDepth
all individuals: 614
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 14210
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variant carriers: 2

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 13

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 14

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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variant carriers: 66

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 776
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 3
allele frequency: 3.441945846718678e-4
allele num: 8716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.309941520467836e-5
allele num: 13680
num of homozygotes: 0

African
type: Population
allele count: 67
allele frequency: 1.271829916476841e-2
allele num: 5268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.650709805216243e-4
allele num: 6058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.28e-2

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.090238e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.502e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.746191120618152e-4
allele num: 45814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.76243093922652e-4
allele num: 3620
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.724137931034483e-3
allele num: 580
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QD
type: SiteQuality
SIO_000300: 1.094e1

BaseQRankSum
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SIO_000300: -1.615e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.104582e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.309643340463614e-4
allele num: 45814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.104582e6

MQ
type: SiteQuality
SIO_000300: 5.777e1

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
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SIO_000300: 5.620000000000001e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.13947128532361e-4
allele num: 8776
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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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: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele 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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European (Non-Finnish)
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allele frequency: 2.183310772455351e-5
allele num: 45802
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -5.06e-1

DP
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ReadPosRankSum
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QD
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SIO_000300: 1.02e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ClippingRankSum
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SIO_000300: -2.48e-1

GenotypeDepth
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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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Latino
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allele num: 8788
num of homozygotes: 0

East Asian
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European (Finnish)
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num of homozygotes: 0

South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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SIO_000300: 5.707e1

ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 1.139211665527455e-4
allele num: 8778
num of homozygotes: 0

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

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

Other
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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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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European (Non-Finnish)
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allele num: 45776
num of homozygotes: 0

FS
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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num of homozygotes: 0

Latino
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allele frequency: 1.16198001394376e-4
allele num: 8606
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: -1.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

DP
type: SiteQuality
SIO_000300: 1.097662e6

QD
type: SiteQuality
SIO_000300: 1.588e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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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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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.488538255433165e-4
allele num: 13436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8492
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44940
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.584e0

MQRankSum
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SIO_000300: 1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

FS
type: SiteQuality
SIO_000300: 1.991e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 7.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 1.083575e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.956947162426615e-4
allele num: 5110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.584e0

FS
type: SiteQuality
SIO_000300: 1.991e0

DP
type: SiteQuality
SIO_000300: 1.083575e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 7.94e0

GenotypeDepth
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bin: 9.75e1
variant carriers: 33

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 38

GenotypeDepth
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GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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variant carriers: 49

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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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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variant carriers: 211

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 3

European (Non-Finnish)
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allele count: 2
allele frequency: 4.543595801717479e-5
allele num: 44018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.421307506053269e-4
allele num: 8260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.785714285714286e-3
allele num: 560
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

South Asian
type: Population
allele count: 218
allele frequency: 1.636882414776994e-2
allele num: 13318
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 2.804e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
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SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.054661e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4802
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.674207721791156e-5
allele num: 42788
num of homozygotes: 0

South Asian
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allele count: 0
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Other
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allele count: 0
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VQSLOD
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.01e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 1
allele frequency: 2.134016218523261e-4
allele num: 4686
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 12928
num of homozygotes: 0

European (Finnish)
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East Asian
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Latino
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.672e0

DP
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 1.15e-2

QD
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ReadPosRankSum
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SIO_000300: 3.77e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

Latino
type: Population
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

East Asian
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allele frequency: 2.803738317757009e-3
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Other
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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: 0.0e0
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BaseQRankSum
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SIO_000300: -1.672e0

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

South Asian
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allele frequency: 7.741136398823347e-5
allele num: 12918
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 4.788813332056317e-5
allele num: 41764
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.529212403257626e-5
allele num: 39538
num of homozygotes: 0

Latino
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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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 8.599931200550395e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 34768
num of homozygotes: 0

East Asian
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Other
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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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FS
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QD
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DP
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

African
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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

East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 2.997062878379188e-5
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MQ
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SIO_000300: 6.0e1

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 3532
num of homozygotes: 0

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

East Asian
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European (Finnish)
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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: 1.522997258604934e-5
allele num: 65660
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
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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

FS
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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SIO_000300: 1.169e1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 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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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: 1.522440777053773e-5
allele num: 65684
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8560
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.723e0

MQ
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SIO_000300: 5.973e1

ReadPosRankSum
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QD
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MQRankSum
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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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SIO_000300: 2.131128e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.52114390021296e-5
allele num: 65740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.37e0

QD
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SIO_000300: 1.758e1

MQ
type: SiteQuality
SIO_000300: 5.434e1

BaseQRankSum
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SIO_000300: 6.899999999999999e-1

VQSLOD
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MQRankSum
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SIO_000300: -3.234e0

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 2.132086e6

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9966
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South Asian
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allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 80

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

Latino
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allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
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allele count: 78
allele frequency: 7.821901323706379e-3
allele num: 9972
num of homozygotes: 0

South Asian
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allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

European (Finnish)
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African
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.003814495081309e-4
allele num: 9962
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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South Asian
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Other
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 9.61e-1

VQSLOD
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DP
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BaseQRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 960
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33134
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65748
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.392e1

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.323e0

DP
type: SiteQuality
SIO_000300: 2.134505e6

FS
type: SiteQuality
SIO_000300: 9.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
all individuals: 2597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5767
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10978
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.149603e6

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

MQ
type: SiteQuality
SIO_000300: 5.618e1

MQRankSum
type: SiteQuality
SIO_000300: -4.326e0

QD
type: SiteQuality
SIO_000300: 4.68e0

FS
type: SiteQuality
SIO_000300: 6.955e0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5767
bin: 9.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.618e1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.259e0

FS
type: SiteQuality
SIO_000300: 6.955e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.326e0

QD
type: SiteQuality
SIO_000300: 4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.149603e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

GenotypeQuality
all individuals: 2597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10978
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 279
allele frequency: 2.784987023357956e-2
allele num: 10018
num of homozygotes: 5

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.430281305061061e-4
allele num: 65836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.649019267488283e-3
allele num: 11522
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 4.68e0

FS
type: SiteQuality
SIO_000300: 6.955e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.326e0

DP
type: SiteQuality
SIO_000300: 2.149603e6

MQ
type: SiteQuality
SIO_000300: 5.618e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5762
bin: 9.75e1
variant carriers: 312

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 280
allele frequency: 2.781641168289291e-2
allele num: 10066
num of homozygotes: 5

Latino
type: Population
allele count: 19
allele frequency: 1.648446989415235e-3
allele num: 11526
num of homozygotes: 0

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

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

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.424242424242424e-4
allele num: 66000
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.919e0

DP
type: SiteQuality
SIO_000300: 2.156351e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.478e0

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

FS
type: SiteQuality
SIO_000300: 4.26e0

MQRankSum
type: SiteQuality
SIO_000300: -4.835e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.376e-1

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
all individuals: 956
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10996
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.289e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.631e0

QD
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.319e0

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

DP
type: SiteQuality
SIO_000300: 2.135568e6

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

GenotypeQuality
all individuals: 698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5526
bin: 9.75e1
variant carriers: 91

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11005
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 85
allele frequency: 8.797350445042434e-3
allele num: 9662
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.607335303320007e-4
allele num: 11506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66010
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.136203e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 11013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33955
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 280
allele frequency: 2.779432201707365e-2
allele num: 10074
num of homozygotes: 5

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.422040569179534e-4
allele num: 66060
num of homozygotes: 0

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

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

Latino
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allele count: 19
allele frequency: 1.647875108412836e-3
allele num: 11530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.889e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.054e0

VQSLOD
type: SiteQuality
SIO_000300: -4.907e-1

MQ
type: SiteQuality
SIO_000300: 5.601e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.91e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.215e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

DP
type: SiteQuality
SIO_000300: 2.160335e6

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 1.948e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.746e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 2.131366e6

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.049317943336831e-4
allele num: 9530
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029385034837928e-5
allele num: 66020
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 1.948e0

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.131366e6

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 692
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GenotypeQuality
all individuals: 34098
bin: 6.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.6661e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.899e0

VQSLOD
type: SiteQuality
SIO_000300: -2.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

DP
type: SiteQuality
SIO_000300: 2.14312e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 2621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 969
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1520
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 638
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variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e0

DP
type: SiteQuality
SIO_000300: 2.143464e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 1.941e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8405825624877e-5
allele num: 10162
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

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

BaseQRankSum
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SIO_000300: 5.1e0

FS
type: SiteQuality
SIO_000300: 1.909e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

DP
type: SiteQuality
SIO_000300: 2.144336e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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VQSLOD
type: SiteQuality
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DP
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InbreedingCoeff
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FS
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.095e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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InbreedingCoeff
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

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

African
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Latino
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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 (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

European (Finnish)
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allele frequency: 0.0e0
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African
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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: 0.0e0
allele num: 66308
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 16494
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Other
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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FS
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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SIO_000300: -5.284e0

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

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele num: 8634
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BaseQRankSum
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SIO_000300: -9.74e-1

QD
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DP
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MQ
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ReadPosRankSum
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SIO_000300: 5.06e-1

MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66448
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African
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allele frequency: 9.703085581214826e-5
allele num: 10306
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East Asian
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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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 (Finnish)
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FS
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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African
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East Asian
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Latino
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European (Finnish)
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.506e0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 2.160943e6

GenotypeQuality
all individuals: 5405
bin: 9.75e1
variant carriers: 14

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

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 693
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11150
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 16
allele frequency: 1.851851851851852e-3
allele num: 8640
num of homozygotes: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.422e1

DP
type: SiteQuality
SIO_000300: 2.151344e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

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

GenotypeQuality
all individuals: 2622
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35190
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5392
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.596e0