12-70736060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736060
    reference: chr 12
allele count: 2
allele frequency: 1.651118632873772e-5
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.82C>T
  hgvsp: ENST00000549709.1:c.82C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.142C>T
  hgvsp: ENST00000548338.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1263C>T
  hgvsp: ENST00000418359.3:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.394C>T
  hgvsp: ENST00000552599.1:c.394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1263C>T
  hgvsp: ENST00000551043.1:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1236C>T
  hgvsp: ENST00000548159.1:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.12C>T
  hgvsp: ENST00000551710.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1263C>T
  hgvsp: ENST00000229195.3:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.332C>T
  hgvsp: ENST00000546673.1:c.332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.216C>T
  hgvsp: ENST00000551483.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.459C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+112C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.202C>T
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr421Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-70736065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736065
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736065
    reference: chr 12
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.87C>T
  hgvsp: ENSP00000447813.1:p.Thr30Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.147C>T
  hgvsp: ENSP00000448808.1:p.Thr50Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1241C>T
  hgvsp: ENSP00000449659.1:p.Thr414Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.17C>T
  hgvsp: ENSP00000447808.1:p.Thr6Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.221C>T
  hgvsp: ENSP00000448883.1:p.Thr74Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1268C>T
  hgvsp: ENSP00000412091.3:p.Thr423Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1268C>T
  hgvsp: ENSP00000229195.3:p.Thr423Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1268C>T
  hgvsp: ENSP00000449260.1:p.Thr423Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+117C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.337C>T
  hgvsp: ENSP00000448298.1:p.Thr113Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.464C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.399C>T
  hgvsp: ENSP00000446507.1:p.Thr134Met
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.207C>T
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr423Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

12-70736091-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736091
    reference: chr 12
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.490A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+143A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+4A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+4A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1290+4A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-70736096-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736096
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736096
    reference: chr 12
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+148A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.495A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+9A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-70736107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736107
    reference: chr 12
allele count: 596
allele frequency: 4.935000414010102e-3
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+159C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.506C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+20C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+20C>A
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 11577
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 5.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 3.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 10
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

12-70736110-CTCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736106
    reference: chr 12
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+28_1290+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+28_169+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+28_1290+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+28_243+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+28_109+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+28_229+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+167_61+170delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+28_1263+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+28_1290+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+28_421+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+28_359+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.514_517delTCAG
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+28_39+31delTCAG
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: CTCAG
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

12-70736111-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736111
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736111
    reference: chr 12
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.510T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+163T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+24T>C
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-70736112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736112
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736112
    reference: chr 12
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+164C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.511C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+25C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+25C>T
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-70736113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736113
    reference: chr 12
allele count: 11721
allele frequency: 9.719711418857285e-2
allele num: 120590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+165A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.512A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+26A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+26A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 1154
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 5.25e1
  variant carriers: 896
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 2.25e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 1023
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 514
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 2.75e1
  variant carriers: 739
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 10994
  bin: 3.25e1
  variant carriers: 1032
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 9.75e1
  variant carriers: 1181
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 735
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-70736120-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736120
    reference: chr 12
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.519A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+172A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+33A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+33A>C
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-70736121-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736121
    reference: chr 12
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.520T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+173T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+34T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+34T>A
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11127
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-70736127-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736126
    reference: chr 12
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.527delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+41delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+180delA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+41delA
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: TA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

12-70736128-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736128
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736128
    reference: chr 12
allele count: 12
allele frequency: 9.981368112856002e-5
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.527A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+41A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+180A>T
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-70736132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736132
    reference: chr 12
allele count: 2
allele frequency: 1.665445340083938e-5
allele num: 120088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.531A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+184A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+45A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-70736132-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736132
    reference: chr 12
allele count: 7
allele frequency: 5.829058690293784e-5
allele num: 120088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.531A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+184A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+45A>T
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9640
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-70736139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70736139
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70736139
    reference: chr 12
allele count: 2
allele frequency: 1.670034569715593e-5
allele num: 119758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548939
  gene symbol: CNOT2
  hgvsc: ENST00000548939.1:n.538A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.61+191A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1290+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1290+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.39+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.169+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1290+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.243+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.109+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.421+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.359+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.229+52A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1263+52A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-70737845-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737845
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737845
    reference: chr 12
allele count: 3
allele frequency: 3.400281089903432e-5
allele num: 88228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.119A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-46A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-63A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-63A>C
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-70737849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737849
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 89054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-42A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.123A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-59A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-59A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-70737851-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737851
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737851
    reference: chr 12
allele count: 2
allele frequency: 2.215035662074159e-5
allele num: 90292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-40A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.125A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-57A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-57A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-70737851-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737851
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737850
    reference: chr 12
allele count: 2
allele frequency: 2.215035662074159e-5
allele num: 90292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.126delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-56delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-39delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-56delT
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: AT
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-70737852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737852
    reference: chr 12
allele count: 5
allele frequency: 5.515354747617367e-5
allele num: 90656
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.126T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-56T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-39T>C
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-70737853-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737852
    reference: chr 12
allele count: 20265
allele frequency: 2.001679178190439e-1
allele num: 101240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.129delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-53delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-36delT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-53delT
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 7.5e0
  variant carriers: 1266
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.5e0
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 16324
  bin: 2.25e1
  variant carriers: 3888
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 1.25e1
  variant carriers: 3224
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.25e1
  variant carriers: 1334
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 1.75e1
  variant carriers: 4480
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 2.75e1
  variant carriers: 2637
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 301
genotype quality: GenotypeQuality
num of homozygotes: 2156
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: AT
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-70737854-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737855
    reference: chr 12
allele count: 2
allele frequency: 3.070215836173283e-5
allele num: 65142
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-54_422-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-54_62-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-54_1291-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.128_129insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-54_244-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-54_1264-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-54_40-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-54_1291-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-54_170-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-37_110-36insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-54_1291-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-54_230-53insA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-54_360-53insA
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-70737859-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737859
    reference: chr 12
allele count: 3
allele frequency: 2.899166972689847e-5
allele num: 103478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-32A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.133A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-49A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-49A>T
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-70737876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737876
    reference: chr 12
allele count: 10
allele frequency: 9.031139368542735e-5
allele num: 110728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.150A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-32A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.110-15A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-32A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33938
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-70737896-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737896
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737896
    reference: chr 12
allele count: 6
allele frequency: 5.05706049930044e-5
allele num: 118646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1291-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1291-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.170-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.115T>G
  hgvsp: ENSP00000447813.1:p.Phe39Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.230-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.170T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.40-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.422-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.360-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.244-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.62-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1291-12T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1264-12T>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe39Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-70737934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737934
    reference: chr 12
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.256T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*14T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1317T>C
  hgvsp: ENST00000418359.3:c.1317T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1317T>C
  hgvsp: ENST00000551043.1:c.1317T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.196T>C
  hgvsp: ENST00000548338.1:c.196T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000548686
  gene symbol: CNOT2
  hgvsc: ENST00000548686.1:n.88T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1290T>C
  hgvsp: ENST00000548159.1:c.1290T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.208T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.270T>C
  hgvsp: ENST00000551483.1:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.66T>C
  hgvsp: ENST00000551710.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.448T>C
  hgvsp: ENST00000552599.1:c.448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.386T>C
  hgvsp: ENST00000546673.1:c.386T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1317T>C
  hgvsp: ENST00000229195.3:c.1317T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr439Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

12-70737965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737965
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1321A>G
  hgvsp: ENSP00000449659.1:p.Met441Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.479A>G
  hgvsp: ENSP00000446507.1:p.Met161Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.287A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1348A>G
  hgvsp: ENSP00000412091.3:p.Met450Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.227A>G
  hgvsp: ENSP00000448808.1:p.Met77Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.301A>G
  hgvsp: ENSP00000448883.1:p.Met101Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1348A>G
  hgvsp: ENSP00000449260.1:p.Met450Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.97A>G
  hgvsp: ENSP00000447808.1:p.Met33Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*45A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.239A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1348A>G
  hgvsp: ENSP00000229195.3:p.Met450Val
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.417A>G
  hgvsp: ENSP00000448298.1:p.Met140Val
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met450Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-70737965-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737965
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.227A>T
  hgvsp: ENSP00000448808.1:p.Met77Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.479A>T
  hgvsp: ENSP00000446507.1:p.Met161Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1348A>T
  hgvsp: ENSP00000449260.1:p.Met450Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1348A>T
  hgvsp: ENSP00000412091.3:p.Met450Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1348A>T
  hgvsp: ENSP00000229195.3:p.Met450Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.287A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*45A>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.301A>T
  hgvsp: ENSP00000448883.1:p.Met101Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.97A>T
  hgvsp: ENSP00000447808.1:p.Met33Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.417A>T
  hgvsp: ENSP00000448298.1:p.Met140Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1321A>T
  hgvsp: ENSP00000449659.1:p.Met441Leu
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.239A>T
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met450Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-70737979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737979
    reference: chr 12
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1335C>T
  hgvsp: ENST00000548159.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.241C>T
  hgvsp: ENST00000548338.1:c.241C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.315C>T
  hgvsp: ENST00000551483.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1362C>T
  hgvsp: ENST00000418359.3:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.431C>T
  hgvsp: ENST00000546673.1:c.431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1362C>T
  hgvsp: ENST00000551043.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1362C>T
  hgvsp: ENST00000229195.3:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.493C>T
  hgvsp: ENST00000552599.1:c.493C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.111C>T
  hgvsp: ENST00000551710.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.301C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.253C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp454Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

12-70737980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737980
    reference: chr 12
allele count: 4
allele frequency: 3.296467834715103e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.254G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.242G>A
  hgvsp: ENSP00000448808.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.432G>A
  hgvsp: ENSP00000448298.1:p.Val145Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1363G>A
  hgvsp: ENSP00000229195.3:p.Val455Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.494G>A
  hgvsp: ENSP00000446507.1:p.Val166Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.112G>A
  hgvsp: ENSP00000447808.1:p.Val38Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.316G>A
  hgvsp: ENSP00000448883.1:p.Val106Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.302G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*60G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1363G>A
  hgvsp: ENSP00000449260.1:p.Val455Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1336G>A
  hgvsp: ENSP00000449659.1:p.Val446Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1363G>A
  hgvsp: ENSP00000412091.3:p.Val455Ile
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val455Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/12-70737982-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737982
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737982
    reference: chr 12
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1365A>C
  hgvsp: ENST00000418359.3:c.1365A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1365A>C
  hgvsp: ENST00000229195.3:c.1365A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.114A>C
  hgvsp: ENST00000551710.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1365A>C
  hgvsp: ENST00000551043.1:c.1365A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.496A>C
  hgvsp: ENST00000552599.1:c.496A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.318A>C
  hgvsp: ENST00000551483.1:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.244A>C
  hgvsp: ENST00000548338.1:c.244A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.434A>C
  hgvsp: ENST00000546673.1:c.434A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*62A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.256A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.304A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1338A>C
  hgvsp: ENST00000548159.1:c.1338A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val455Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum

12-70737993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70737993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70737993
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.445T>C
  hgvsp: ENSP00000448298.1:p.Leu149Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.267T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*73T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1376T>C
  hgvsp: ENSP00000229195.3:p.Leu459Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1349T>C
  hgvsp: ENSP00000449659.1:p.Leu450Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1376T>C
  hgvsp: ENSP00000412091.3:p.Leu459Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.315T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.125T>C
  hgvsp: ENSP00000447808.1:p.Leu42Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.329T>C
  hgvsp: ENSP00000448883.1:p.Leu110Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.507T>C
  hgvsp: ENSP00000446507.1:p.Leu170Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1376T>C
  hgvsp: ENSP00000449260.1:p.Leu459Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.255T>C
  hgvsp: ENSP00000448808.1:p.Leu86Ser
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu459Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

12-70738017-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738017
    reference: chr 12
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.531A>G
  hgvsp: ENSP00000446507.1:p.Gln178Arg
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+9A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.469A>G
  hgvsp: ENSP00000448298.1:p.Gln157Arg
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+9A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln178Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-70738026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738026
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738026
    reference: chr 12
allele count: 6
allele frequency: 4.970673029128144e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+7T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.540T>C
  hgvsp: ENSP00000446507.1:p.Leu181Ser
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+18T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+18T>C
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu181Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

12-70738032-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738032
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738033
    reference: chr 12
allele count: 3
allele frequency: 2.492936679408343e-5
allele num: 120340
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.550dupT
  hgvsp: ENSP00000446507.1:p.Val185CysfsTer15
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+17dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+28dupT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+28dupT
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val185CysfsTer15
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

12-70738032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738032
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738032
    reference: chr 12
allele count: 4
allele frequency: 3.323915572544457e-5
allele num: 120340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+13C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.546C>T
  hgvsp: ENSP00000446507.1:p.Thr183Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+24C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+24C>T
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr183Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-70738034-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738034
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738031
    reference: chr 12
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+28_1391+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.550_552delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+28_1364+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+17_471+19delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+28_1391+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+28_1391+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+28_330+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+28_140+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+28_270+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+28_282+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+28_*88+30delTGT
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+28_344+30delTGT
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe184_Val185delinsLeu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: TTTG
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-70738037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738037
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738037
    reference: chr 12
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.551G>A
  hgvsp: ENSP00000446507.1:p.Val185Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+18G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+29G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+29G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val185Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-70738043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738043
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738043
    reference: chr 12
allele count: 8
allele frequency: 6.696017543565965e-5
allele num: 119474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.557T>C
  hgvsp: ENSP00000446507.1:p.Ter187GlnextTer17
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+24T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+35T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+35T>C
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37620
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter187GlnextTer17
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-70738044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738044
    reference: chr 12
allele count: 1
allele frequency: 8.367780697203488e-6
allele num: 119506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.558A>G
  hgvsp: ENSP00000446507.1:p.Ter187TrpextTer17
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+36A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+25A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter187TrpextTer17
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

12-70738046-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738046
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738046
    reference: chr 12
allele count: 1
allele frequency: 8.38447865311735e-6
allele num: 119268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*1T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+38T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+27T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+38T>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-70738047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738047
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738047
    reference: chr 12
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+28G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+39G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+39G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-70738060-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738060
    reference: chr 12
allele count: 1
allele frequency: 8.49733183780293e-6
allele num: 117684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*15G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+41G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+52G>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+52G>T
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-70738063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738063
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738063
    reference: chr 12
allele count: 1
allele frequency: 8.521226374899876e-6
allele num: 117354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+44G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+55G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+55G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-70738069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738069
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738069
    reference: chr 12
allele count: 1
allele frequency: 8.578830876928093e-6
allele num: 116566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+61A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+50A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11084
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-70738071-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738071
    reference: chr 12
allele count: 2
allele frequency: 1.720578114246387e-5
allele num: 116240
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*26C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+52C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+63C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+63C>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

12-70738077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738077
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738077
    reference: chr 12
allele count: 2
allele frequency: 1.727324547009138e-5
allele num: 115786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+58G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+69G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

12-70738082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738082
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738082
    reference: chr 12
allele count: 14
allele frequency: 1.217730150998539e-4
allele num: 114968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+63G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+74G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+74G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20863
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

12-70738093-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70738093
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70738093
    reference: chr 12
allele count: 1
allele frequency: 8.899489169321681e-6
allele num: 112366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.471+74T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.282+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1391+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.344+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.330+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1364+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000446507
  ensembl transcript: ENST00000552599
  gene symbol: CNOT2
  hgvsc: ENST00000552599.1:c.*48T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.140+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1391+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*88+85T>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1391+85T>G
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19843
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

12-70739911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739911
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739911
    reference: chr 12
allele count: 2
allele frequency: 1.777524974225888e-5
allele num: 112516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-49A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1903A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-49A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16240
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

12-70739912-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739912
    reference: chr 12
allele count: 1
allele frequency: 8.883045818750333e-6
allele num: 112574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-48T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1904T>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-48T>A
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-70739918-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739918
    reference: chr 12
allele count: 3
allele frequency: 2.664156439266114e-5
allele num: 112606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1910C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-42C>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-42C>G
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-70739924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739924
    reference: chr 12
allele count: 1
allele frequency: 8.840951286358412e-6
allele num: 113110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1916G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-36G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-36G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-70739924-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739925
    reference: chr 12
allele count: 8
allele frequency: 7.07276102908673e-5
allele num: 113110
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1921dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-31dupA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-31dupA
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
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: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-70739924-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739922
    reference: chr 12
allele count: 1
allele frequency: 8.840951286358412e-6
allele num: 113110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-32_1392-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-32_1365-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1920_270+1921delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-32_472-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-32_331-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-32_141-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-32_1392-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-32_283-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-32_*89-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-32_345-31delAA
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-32_1392-31delAA
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: GAA
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-70739926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739926
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739926
    reference: chr 12
allele count: 1
allele frequency: 8.821609414421567e-6
allele num: 113358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-34A>G
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1918A>G
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-70739944-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739944
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739944
    reference: chr 12
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1936C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-16C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-16C>A
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-70739944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739944
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739944
    reference: chr 12
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-16C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1936C>T
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-70739954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739954
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739954
    reference: chr 12
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.141-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1392-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1392-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.472-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1946T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1392-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.331-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.283-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1365-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.345-6T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*89-6T>C
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29708
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1392-6T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-70739972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739972
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739972
    reference: chr 12
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1404T>C
  hgvsp: ENST00000229195.3:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*101T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.484T>C
  hgvsp: ENSP00000448298.1:p.Ile162Thr
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1404T>C
  hgvsp: ENST00000418359.3:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.357T>C
  hgvsp: ENST00000551483.1:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.295T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1404T>C
  hgvsp: ENST00000551043.1:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.343T>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.153T>C
  hgvsp: ENST00000551710.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1377T>C
  hgvsp: ENST00000548159.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1964T>C
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile162Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-70739976-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739976
    reference: chr 12
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1408A>C
  hgvsp: ENST00000418359.3:c.1408A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1408A>C
  hgvsp: ENST00000229195.3:c.1408A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1408A>C
  hgvsp: ENST00000551043.1:c.1408A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.299A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1381A>C
  hgvsp: ENST00000548159.1:c.1381A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.361A>C
  hgvsp: ENST00000551483.1:c.361A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1968A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.157A>C
  hgvsp: ENST00000551710.1:c.157A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*105A>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.488A>C
  hgvsp: ENST00000546673.1:c.488A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.347A>C
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg470Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-70739994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739994
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739994
    reference: chr 12
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.365C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.506C>A
  hgvsp: ENSP00000448298.1:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1426C>A
  hgvsp: ENST00000551043.1:c.1426C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.379C>A
  hgvsp: ENST00000551483.1:c.379C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1986C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1426C>A
  hgvsp: ENST00000229195.3:c.1426C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.175C>A
  hgvsp: ENST00000551710.1:c.175C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1426C>A
  hgvsp: ENST00000418359.3:c.1426C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.317C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*123C>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1399C>A
  hgvsp: ENST00000548159.1:c.1399C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn169Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-70739995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739995
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739995
    reference: chr 12
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.366G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.380G>A
  hgvsp: ENSP00000448883.1:p.Arg127Gln
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.176G>A
  hgvsp: ENSP00000447808.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1400G>A
  hgvsp: ENSP00000449659.1:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.507G>A
  hgvsp: ENSP00000448298.1:p.Glu170Lys
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1427G>A
  hgvsp: ENSP00000449260.1:p.Arg476Gln
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1427G>A
  hgvsp: ENSP00000229195.3:p.Arg476Gln
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1427G>A
  hgvsp: ENSP00000412091.3:p.Arg476Gln
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*124G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1987G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.318G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg476Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

12-70739997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70739997
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70739997
    reference: chr 12
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.509G>A
  hgvsp: ENST00000546673.1:c.509G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.382G>A
  hgvsp: ENSP00000448883.1:p.Val128Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1429G>A
  hgvsp: ENSP00000229195.3:p.Val477Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.320G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.178G>A
  hgvsp: ENSP00000447808.1:p.Val60Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.368G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1429G>A
  hgvsp: ENSP00000449260.1:p.Val477Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1402G>A
  hgvsp: ENSP00000449659.1:p.Val468Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1429G>A
  hgvsp: ENSP00000412091.3:p.Val477Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+1989G>A
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val477Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-70740031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70740031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70740031
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1463C>T
  hgvsp: ENSP00000449260.1:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1463C>T
  hgvsp: ENSP00000412091.3:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+2023C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.354C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.402C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.543C>T
  hgvsp: ENSP00000448298.1:p.Gln182Ter
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1463C>T
  hgvsp: ENSP00000229195.3:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.416C>T
  hgvsp: ENSP00000448883.1:p.Thr139Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.212C>T
  hgvsp: ENSP00000447808.1:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1436C>T
  hgvsp: ENSP00000449659.1:p.Thr479Ile
  variant of: http://identifiers.org/hgnc/7878
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln182Ter
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-70740099-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70740099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70740099
    reference: chr 12
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000550705
  gene symbol: CNOT2
  hgvsc: ENST00000550705.1:n.422G>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449260
  ensembl transcript: ENST00000551043
  gene symbol: CNOT2
  hgvsc: ENST00000551043.1:c.1531G>C
  hgvsp: ENSP00000449260.1:p.Ala511Pro
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448808
  ensembl transcript: ENST00000548338
  gene symbol: CNOT2
  hgvsc: ENST00000548338.1:c.270+2091G>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448298
  ensembl transcript: ENST00000546673
  gene symbol: CNOT2
  hgvsc: ENST00000546673.1:c.*63G>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111596
  ensembl transcript: ENST00000551434
  gene symbol: CNOT2
  hgvsc: ENST00000551434.1:n.470G>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000229195
  ensembl transcript: ENST00000229195
  gene symbol: CNOT2
  hgvsc: ENST00000229195.3:c.1531G>C
  hgvsp: ENSP00000229195.3:p.Ala511Pro
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000449659
  ensembl transcript: ENST00000548159
  gene symbol: CNOT2
  hgvsc: ENST00000548159.1:c.1504G>C
  hgvsp: ENSP00000449659.1:p.Ala502Pro
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447808
  ensembl transcript: ENST00000551710
  gene symbol: CNOT2
  hgvsc: ENST00000551710.1:c.280G>C
  hgvsp: ENSP00000447808.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000412091
  ensembl transcript: ENST00000418359
  gene symbol: CNOT2
  hgvsc: ENST00000418359.3:c.1531G>C
  hgvsp: ENSP00000412091.3:p.Ala511Pro
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000447813
  ensembl transcript: ENST00000549709
  gene symbol: CNOT2
  hgvsc: ENST00000549709.1:c.*228G>C
  variant of: http://identifiers.org/hgnc/7878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111596
  ensembl protein: ENSP00000448883
  ensembl transcript: ENST00000551483
  gene symbol: CNOT2
  hgvsc: ENST00000551483.1:c.484G>C
  hgvsp: ENSP00000448883.1:p.Ala162Pro
  variant of: http://identifiers.org/hgnc/7878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala511Pro
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1557
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18270
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4563
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 11458
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 7.839e0

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.358792e6

GenotypeDepth
all individuals: 11936
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1715
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2589
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18268
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7308
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18741
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.427e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.358172e6

GenotypeDepth
all individuals: 11825
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1556
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18263
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 2.350907e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

FS
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15512
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7396
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5749
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18261
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 1.167e0

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 2.348482e6

GenotypeDepth
all individuals: 314
bin: 8.75e1
variant carriers: 12

GenotypeDepth
all individuals: 1733
bin: 5.75e1
variant carriers: 60

GenotypeDepth
all individuals: 3762
bin: 4.75e1
variant carriers: 55

GenotypeDepth
all individuals: 1321
bin: 6.25e1
variant carriers: 48

GenotypeQuality
all individuals: 4444
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 9.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 322
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18469
bin: 9.75e1
variant carriers: 581

GenotypeQuality
all individuals: 7034
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2737
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 11
allele frequency: 1.219512195121951e-2
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 35
allele frequency: 3.065872459705676e-3
allele num: 11416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.034901365705615e-4
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.863987635239567e-4
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 365
allele frequency: 5.495829192640106e-3
allele num: 66414
num of homozygotes: 4

South Asian
type: Population
allele count: 178
allele frequency: 1.081409477521264e-2
allele num: 16460
num of homozygotes: 6

DP
type: SiteQuality
SIO_000300: 2.344405e6

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.508e0

MQ
type: SiteQuality
SIO_000300: 5.393e1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

DP
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SIO_000300: 2.325388e6

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 9.045999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -6.478e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 655
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GenotypeQuality
all individuals: 6948
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 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: 16454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.615e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 3.905e0

VQSLOD
type: SiteQuality
SIO_000300: -3.706e-1

DP
type: SiteQuality
SIO_000300: 2.320038e6

GenotypeDepth
all individuals: 493
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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: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18048
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variant carriers: 1

GenotypeQuality
all individuals: 447
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.162e0

QD
type: SiteQuality
SIO_000300: 5.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.845e0

DP
type: SiteQuality
SIO_000300: 2.319797e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeDepth
all individuals: 1792
bin: 5.75e1
variant carriers: 768

GenotypeDepth
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variant carriers: 627

GenotypeDepth
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variant carriers: 177

GenotypeDepth
all individuals: 7180
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variant carriers: 1166

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 3086
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variant carriers: 19

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 242
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variant carriers: 14

GenotypeQuality
all individuals: 901
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variant carriers: 4

GenotypeQuality
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variant carriers: 27

GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 16

GenotypeQuality
all individuals: 600
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variant carriers: 5

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 196
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GenotypeQuality
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variant carriers: 10796

GenotypeQuality
all individuals: 2312
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variant carriers: 35

GenotypeQuality
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variant carriers: 18

GenotypeQuality
all individuals: 2379
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GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 12

African
type: Population
allele count: 2120
allele frequency: 2.049101101875121e-1
allele num: 10346
num of homozygotes: 213

Latino
type: Population
allele count: 550
allele frequency: 4.824561403508772e-2
allele num: 11400
num of homozygotes: 21

European (Non-Finnish)
type: Population
allele count: 6841
allele frequency: 1.032292138222423e-1
allele num: 66270
num of homozygotes: 387

South Asian
type: Population
allele count: 1402
allele frequency: 8.51968886728245e-2
allele num: 16456
num of homozygotes: 76

European (Finnish)
type: Population
allele count: 669
allele frequency: 1.01640838650866e-1
allele num: 6582
num of homozygotes: 32

Other
type: Population
allele count: 96
allele frequency: 1.06430155210643e-1
allele num: 902
num of homozygotes: 6

East Asian
type: Population
allele count: 43
allele frequency: 4.980310400741255e-3
allele num: 8634
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.450104e6

FS
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

QD
type: SiteQuality
SIO_000300: 1.547e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 498
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 25
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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: 788
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GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.568e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQRankSum
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SIO_000300: -5.47e-1

DP
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
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SIO_000300: 3.9e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1604
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.796622097114708e-5
allele num: 11368
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.63e0

MQRankSum
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SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 9.56e0

BaseQRankSum
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SIO_000300: 4.15e0

DP
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SIO_000300: 2.211703e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 2002
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 205
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 1960
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1420
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GenotypeQuality
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GenotypeQuality
all individuals: 70
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 622
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GenotypeQuality
all individuals: 14982
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: 3.72e0

InbreedingCoeff
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SIO_000300: 4.6e-3

MQRankSum
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MQ
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SIO_000300: 6.062e1

ClippingRankSum
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SIO_000300: -3.87e-1

VQSLOD
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SIO_000300: 7.6e-2

ReadPosRankSum
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FS
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QD
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DP
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SIO_000300: 2.180639e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.166861143523921e-3
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

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

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.99e0

FS
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SIO_000300: 1.049e0

QD
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
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SIO_000300: 3.18e0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.948558067030398e-4
allele num: 10264
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65996
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

FS
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SIO_000300: 1.151e0

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -1.71e-1

InbreedingCoeff
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SIO_000300: 3.8e-3

QD
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SIO_000300: 1.492e1

ReadPosRankSum
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SIO_000300: 4.97e-1

BaseQRankSum
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SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 2.161863e6

GenotypeDepth
all individuals: 3123
bin: 4.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2748
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variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.821453775582216e-5
allele num: 11336
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.845674201091193e-4
allele num: 10264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65996
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 2.161863e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.492e1

VQSLOD
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SIO_000300: 2.17e0

BaseQRankSum
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SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 1.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11306
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.040900106431504e-5
allele num: 65770
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: 2.41e-1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 6.033789219629928e-5
allele num: 49720
num of homozygotes: 0

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

Other
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
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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Other
type: Population
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allele frequency: 0.0e0
allele num: 700
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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DP
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QD
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BaseQRankSum
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SIO_000300: 1.38e0

MQRankSum
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InbreedingCoeff
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SIO_000300: -4.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.931744908390344e-5
allele num: 50868
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: -2.89e-1

DP
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SIO_000300: 1.138591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
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SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.931744908390344e-5
allele num: 50868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 1.138591e6

ClippingRankSum
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SIO_000300: 4.88e-1

InbreedingCoeff
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SIO_000300: 1.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
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SIO_000300: 1.537e1

VQSLOD
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SIO_000300: 4.85e0

BaseQRankSum
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SIO_000300: 3.2e0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.720815318097591e-4
allele num: 6476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.87e0

BaseQRankSum
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SIO_000300: 2.93e0

DP
type: SiteQuality
SIO_000300: 1.145652e6

QD
type: SiteQuality
SIO_000300: 2.015e1

GenotypeDepth
all individuals: 79
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variant carriers: 45

GenotypeDepth
all individuals: 117
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variant carriers: 69

GenotypeDepth
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variant carriers: 217

GenotypeDepth
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GenotypeQuality
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variant carriers: 16198

GenotypeQuality
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variant carriers: 309

GenotypeQuality
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bin: 6.25e1
variant carriers: 175

GenotypeQuality
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bin: 5.25e1
variant carriers: 210

GenotypeQuality
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bin: 8.25e1
variant carriers: 307

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 109

GenotypeQuality
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variant carriers: 75

GenotypeQuality
all individuals: 1946
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 238

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 313

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 225

GenotypeQuality
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bin: 4.75e1
variant carriers: 222

GenotypeQuality
all individuals: 709
bin: 7.25e1
variant carriers: 171

GenotypeQuality
all individuals: 6234
bin: 2.25e1
variant carriers: 82

African
type: Population
allele count: 3371
allele frequency: 3.730633023461709e-1
allele num: 9036
num of homozygotes: 594

European (Finnish)
type: Population
allele count: 1055
allele frequency: 1.678866963717378e-1
allele num: 6284
num of homozygotes: 92

South Asian
type: Population
allele count: 2640
allele frequency: 2.323943661971831e-1
allele num: 11360
num of homozygotes: 293

Other
type: Population
allele count: 161
allele frequency: 2.048346055979644e-1
allele num: 786
num of homozygotes: 17

Latino
type: Population
allele count: 971
allele frequency: 9.486127393513091e-2
allele num: 10236
num of homozygotes: 66

European (Non-Finnish)
type: Population
allele count: 10187
allele frequency: 1.81547619047619e-1
allele num: 56112
num of homozygotes: 870

East Asian
type: Population
allele count: 1880
allele frequency: 2.531645569620253e-1
allele num: 7426
num of homozygotes: 224

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.64e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 1.24194e6

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.764e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 48
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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: 611
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.328218243819267e-5
allele num: 37536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6690
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.313e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
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SIO_000300: 7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

DP
type: SiteQuality
SIO_000300: 7.72279e5

GenotypeDepth
all individuals: 69
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3749
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variant carriers: 3

GenotypeQuality
all individuals: 1245
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.221023320570832e-5
allele num: 57460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11660
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.337e0

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.28066e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3007
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 143
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GenotypeQuality
all individuals: 1398
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GenotypeQuality
all individuals: 265
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 419
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variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 9.036688957166094e-5
allele num: 11066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.45602795573675e-4
allele num: 61812
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.447699e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.519e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
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GenotypeDepth
all individuals: 356
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 15334
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.601556798832401e-5
allele num: 65776
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

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

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

VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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South Asian
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MQRankSum
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 4.0e-4

MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

African
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Other
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allele num: 908
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

East Asian
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South Asian
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MQRankSum
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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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MQ
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FS
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66694
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.69e-1

QD
type: SiteQuality
SIO_000300: 8.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.568153e6

FS
type: SiteQuality
SIO_000300: 4.993e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 146
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variant carriers: 0

GenotypeDepth
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bin: 5.25e1
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
bin: 4.75e1
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GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
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: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.8033e1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
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SIO_000300: 4.92e0

QD
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: -3.68e0

ReadPosRankSum
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SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.56785e6

GenotypeDepth
all individuals: 440
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 33
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 1.351e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
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SIO_000300: 3.8e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.563293e6

QD
type: SiteQuality
SIO_000300: 1.589e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

GenotypeDepth
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bin: 5.75e1
variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 620
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.525360464766262e-5
allele num: 66442
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

DP
type: SiteQuality
SIO_000300: 1.559225e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

QD
type: SiteQuality
SIO_000300: 1.509e1

FS
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeDepth
all individuals: 724
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524750384603782e-5
allele num: 66302
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 1.805e0

DP
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ClippingRankSum
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SIO_000300: -8.400000000000001e-2

MQ
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SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
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: 11450
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16246
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524750384603782e-5
allele num: 66302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.554095e6

QD
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MQRankSum
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 1.805e0

BaseQRankSum
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VQSLOD
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SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.665e0

ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.607e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.774e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeDepth
all individuals: 70
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 402
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15
bin: 1.75e1
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 500
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.485e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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ClippingRankSum
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VQSLOD
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QD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 4.363545692557038e-4
allele num: 16042
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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MQ
type: SiteQuality
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FS
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QD
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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SIO_000300: 3.11e-1

ClippingRankSum
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SIO_000300: -4.5e-1

BaseQRankSum
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SIO_000300: 3.98e0

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
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.517819197377208e-5
allele num: 65884
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.536428e6

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.519895431194334e-5
allele num: 65794
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: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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VQSLOD
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QD
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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SIO_000300: -5.84e-1

InbreedingCoeff
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SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.918e1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

East Asian
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South Asian
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African
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allele num: 10102
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European (Finnish)
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Other
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Latino
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FS
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MQ
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VQSLOD
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MQRankSum
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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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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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: 8372
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65014
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African
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South Asian
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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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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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 num: 64824
num of homozygotes: 0

East Asian
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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DP
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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

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

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Other
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Latino
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South Asian
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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South Asian
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European (Finnish)
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East Asian
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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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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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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Other
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Latino
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European (Non-Finnish)
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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FS
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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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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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Latino
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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FS
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615143586264819e-5
allele num: 61914
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 2.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 1.437893e6

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.292114869011855e-4
allele num: 61914
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.437893e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 2.109e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 2295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615143586264819e-5
allele num: 61914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 2.109e0

QD
type: SiteQuality
SIO_000300: 1.099e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

DP
type: SiteQuality
SIO_000300: 1.437893e6

GenotypeQuality
all individuals: 37310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.611551601882292e-5
allele num: 62052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 2.678e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.447138e6

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.097e0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43390
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63372
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.236705416769726e-4
allele num: 8086
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.517208e6

FS
type: SiteQuality
SIO_000300: 3.026e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43390
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577983967682888e-5
allele num: 63372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
SIO_000300: 1.517208e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

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

GenotypeDepth
all individuals: 1428
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 46482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 268
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variant carriers: 0

GenotypeQuality
all individuals: 1067
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.107e1

DP
type: SiteQuality
SIO_000300: 1.551879e6

FS
type: SiteQuality
SIO_000300: 7.104e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 1074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
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GenotypeQuality
all individuals: 1137
bin: 7.25e1
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GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48323
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1592e1

DP
type: SiteQuality
SIO_000300: 1.578442e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.421e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.842e1

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 1.580623e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.581e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
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variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.583617e6

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeDepth
all individuals: 25
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
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variant carriers: 0

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 5810
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.583882e6

QD
type: SiteQuality
SIO_000300: 1.014e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.412e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.088e0

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

GenotypeQuality
all individuals: 1073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 609
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variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.09e-1

DP
type: SiteQuality
SIO_000300: 1.584024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.874e0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.533e0

QD
type: SiteQuality
SIO_000300: 1.264e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.23e0

GenotypeDepth
all individuals: 20511
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 1064
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48561
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5810
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 1.585721e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -3.008e0

QD
type: SiteQuality
SIO_000300: 1.2e0

GenotypeDepth
all individuals: 83
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1057
bin: 7.75e1
variant carriers: 0