2-233164774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164774
    reference: chr 2
allele count: 3
allele frequency: 2.496463343596572e-5
allele num: 120170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.266C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.589C>T
  hgvsp: ENSP00000415419.1:p.His197Tyr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1684C>T
  hgvsp: ENSP00000315569.7:p.His562Tyr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*910C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1684C>T
  hgvsp: ENSP00000386799.1:p.His562Tyr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1684C>T
  hgvsp: ENSP00000374655.5:p.His562Tyr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1767C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36702C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His562Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-233164776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164776
    reference: chr 2
allele count: 2
allele frequency: 1.664059639897494e-5
allele num: 120188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1686C>T
  hgvsp: ENST00000325385.7:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.591C>T
  hgvsp: ENST00000424049.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*912C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1686C>T
  hgvsp: ENST00000409307.1:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.268C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1686C>T
  hgvsp: ENST00000390005.5:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1769C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36704C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His562His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-233164777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164777
    reference: chr 2
allele count: 6
allele frequency: 4.991929713629632e-5
allele num: 120194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.592G>A
  hgvsp: ENSP00000415419.1:p.Glu198Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1687G>A
  hgvsp: ENSP00000315569.7:p.Glu563Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1770G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*913G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36705G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.269G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1687G>A
  hgvsp: ENSP00000386799.1:p.Glu563Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1687G>A
  hgvsp: ENSP00000374655.5:p.Glu563Lys
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu563Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-233164782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164782
    reference: chr 2
allele count: 3
allele frequency: 2.495092983798529e-5
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.274C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1692C>T
  hgvsp: ENST00000325385.7:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.597C>T
  hgvsp: ENST00000424049.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1775C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1692C>T
  hgvsp: ENST00000390005.5:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*918C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36710C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1692C>T
  hgvsp: ENST00000409307.1:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr564Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-233164783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164783
    reference: chr 2
allele count: 4
allele frequency: 3.32695666638942e-5
allele num: 120230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.598G>A
  hgvsp: ENSP00000415419.1:p.Gly200Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1693G>A
  hgvsp: ENSP00000374655.5:p.Gly565Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.275G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*919G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36711G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1776G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1693G>A
  hgvsp: ENSP00000386799.1:p.Gly565Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1693G>A
  hgvsp: ENSP00000315569.7:p.Gly565Arg
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly565Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-233164797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164797
    reference: chr 2
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1707A>G
  hgvsp: ENST00000409307.1:c.1707A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*933A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.612A>G
  hgvsp: ENST00000424049.1:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36725A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1707A>G
  hgvsp: ENST00000390005.5:c.1707A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1707A>G
  hgvsp: ENST00000325385.7:c.1707A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.289A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1790A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly569Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

2-233164797-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164797
    reference: chr 2
allele count: 2
allele frequency: 1.66237220513673e-5
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.612A>T
  hgvsp: ENST00000424049.1:c.612A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1790A>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1707A>T
  hgvsp: ENST00000409307.1:c.1707A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.289A>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1707A>T
  hgvsp: ENST00000390005.5:c.1707A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*933A>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36725A>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1707A>T
  hgvsp: ENST00000325385.7:c.1707A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly569Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-233164812-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164812
    reference: chr 2
allele count: 18
allele frequency: 1.497030888737338e-4
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*948G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1805G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.627G>T
  hgvsp: ENSP00000415419.1:p.Glu209Asp
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1722G>T
  hgvsp: ENSP00000315569.7:p.Glu574Asp
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1722G>T
  hgvsp: ENSP00000386799.1:p.Glu574Asp
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.304G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1722G>T
  hgvsp: ENSP00000374655.5:p.Glu574Asp
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36740G>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu574Asp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-233164816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164816
    reference: chr 2
allele count: 13
allele frequency: 1.081872805046521e-4
allele num: 120162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*952C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.308C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1726C>T
  hgvsp: ENSP00000386799.1:p.Arg576Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1726C>T
  hgvsp: ENSP00000374655.5:p.Arg576Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1726C>T
  hgvsp: ENSP00000315569.7:p.Arg576Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1809C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.631C>T
  hgvsp: ENSP00000415419.1:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36744C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg576Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

2-233164817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164817
    reference: chr 2
allele count: 14
allele frequency: 1.165151969106828e-4
allele num: 120156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.632G>A
  hgvsp: ENSP00000415419.1:p.Arg211His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1727G>A
  hgvsp: ENSP00000374655.5:p.Arg576His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1810G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.309G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1727G>A
  hgvsp: ENSP00000386799.1:p.Arg576His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1727G>A
  hgvsp: ENSP00000315569.7:p.Arg576His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*953G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36745G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27142
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg576His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-233164818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164818
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164818
    reference: chr 2
allele count: 7
allele frequency: 5.826535708340269e-5
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1728C>T
  hgvsp: ENST00000325385.7:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.310C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*954C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.633C>T
  hgvsp: ENST00000424049.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1728C>T
  hgvsp: ENST00000390005.5:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1811C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1728C>T
  hgvsp: ENST00000409307.1:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36746C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5450
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Arg576Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-233164819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164819
    reference: chr 2
allele count: 1
allele frequency: 8.324453915823122e-6
allele num: 120128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.634G>A
  hgvsp: ENSP00000415419.1:p.Glu212Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1812G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1729G>A
  hgvsp: ENSP00000374655.5:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1729G>A
  hgvsp: ENSP00000386799.1:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*955G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.311G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36747G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1729G>A
  hgvsp: ENSP00000315569.7:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu577Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-233164827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164827
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164827
    reference: chr 2
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.642C>T
  hgvsp: ENST00000424049.1:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1737C>T
  hgvsp: ENST00000325385.7:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1737C>T
  hgvsp: ENST00000390005.5:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*963C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1737C>T
  hgvsp: ENST00000409307.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.319C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36755C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1820C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1737C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

2-233164844-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164844
    reference: chr 2
allele count: 1
allele frequency: 8.387150884844418e-6
allele num: 119230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1739+15G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1739+15G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*965+15G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.321+15G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1822+15G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36772G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1739+15G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.644+15G>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-233164850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164850
    reference: chr 2
allele count: 2
allele frequency: 1.679007370842358e-5
allele num: 119118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.644+21G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*965+21G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36778G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1739+21G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1739+21G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.321+21G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1822+21G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1739+21G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-233164852-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164852
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164852
    reference: chr 2
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1739+23G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1739+23G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1739+23G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1822+23G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*965+23G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36780G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.644+23G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.321+23G>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-233164857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233164857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233164857
    reference: chr 2
allele count: 263
allele frequency: 2.212352159356651e-3
allele num: 118878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1822+28A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1739+28A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1739+28A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.644+28A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1739+28A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000498319
  gene symbol: DIS3L2
  hgvsc: ENST00000498319.2:n.321+28A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*965+28A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1581+36785A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15069
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18152
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 9.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-233194482-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194482
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 9254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-41C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-41C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-41C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-111C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1265C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13573C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-114C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-41C>G
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19004
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-233194488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194488
    reference: chr 2
allele count: 2
allele frequency: 2.099076406381192e-4
allele num: 9528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-35C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-35C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1271C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-35C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13567C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-105C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-108C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-35C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20449
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31796
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-233194492-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194492
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194492
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 9592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1275C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-101C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-31C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-31C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-31C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-104C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13563C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-31C>G
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21628
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14278
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-233194493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194493
    reference: chr 2
allele count: 2
allele frequency: 1.979414093428345e-4
allele num: 10104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-30G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-30G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13562G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1276G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-100G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-30G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-103G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-30G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22433
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29809
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-233194498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194498
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194498
    reference: chr 2
allele count: 2
allele frequency: 1.778726431874778e-4
allele num: 11244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1281C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13557C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-95C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-25C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-98C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-25C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-25C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-25C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24461
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-233194503-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194503
    reference: chr 2
allele count: 4
allele frequency: 3.36304018833025e-4
allele num: 11894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-93A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1286A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-20A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-20A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-20A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-20A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13552A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-90A>C
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23453
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22024
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-233194503-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194503
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 11894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13552A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-20A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-20A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-93A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1286A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-90A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-20A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-20A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22024
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-233194508-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194508
    reference: chr 2
allele count: 4
allele frequency: 2.76166804750069e-4
allele num: 14484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-85A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-15A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13547A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-15A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-88A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1291A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-15A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-15A>C
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30537
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-233194511-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194511
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13544C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-82C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1294C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-12C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-12C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-85C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-12C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-12C>A
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31829
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28597
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-233194512-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194512
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194512
    reference: chr 2
allele count: 4
allele frequency: 2.211166390270868e-4
allele num: 18090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740-11A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823-11A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1295A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740-11A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645-11A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13543A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-81A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-84A>C
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-233194523-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194523
    reference: chr 2
allele count: 3
allele frequency: 1.054036961562785e-4
allele num: 28462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-73G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1823G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13532G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1740G>T
  hgvsp: ENSP00000315569.7:p.Lys580Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.645G>T
  hgvsp: ENSP00000415419.1:p.Lys215Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-70G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1740G>T
  hgvsp: ENSP00000386799.1:p.Lys580Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1306G>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys580Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-233194552-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194552
    reference: chr 2
allele count: 1
allele frequency: 1.300187226960682e-5
allele num: 76912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.674A>G
  hgvsp: ENSP00000415419.1:p.Asn225Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-41A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1769A>G
  hgvsp: ENSP00000386799.1:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1852A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1335A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-44A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1769A>G
  hgvsp: ENSP00000315569.7:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13503A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26551
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn590Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-233194556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194556
    reference: chr 2
allele count: 1
allele frequency: 1.20837159843395e-5
allele num: 82756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13499G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1773G>A
  hgvsp: ENSP00000386799.1:p.Met591Ile
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1856G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1339G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-37G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1773G>A
  hgvsp: ENSP00000315569.7:p.Met591Ile
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-40G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.678G>A
  hgvsp: ENSP00000415419.1:p.Met226Ile
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met591Ile
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-233194557-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194557
    reference: chr 2
allele count: 9
allele frequency: 1.07357572287432e-4
allele num: 83832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13498G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1340G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.679G>T
  hgvsp: ENSP00000415419.1:p.Ala227Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1774G>T
  hgvsp: ENSP00000386799.1:p.Ala592Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1857G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1774G>T
  hgvsp: ENSP00000315569.7:p.Ala592Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-36G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-39G>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30026
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28494
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Ala592Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

2-233194558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194558
    reference: chr 2
allele count: 1
allele frequency: 1.178772661904425e-5
allele num: 84834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.680C>T
  hgvsp: ENSP00000415419.1:p.Ala227Val
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13497C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-35C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1341C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1775C>T
  hgvsp: ENSP00000386799.1:p.Ala592Val
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1858C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-38C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1775C>T
  hgvsp: ENSP00000315569.7:p.Ala592Val
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala592Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-233194564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194564
    reference: chr 2
allele count: 1
allele frequency: 1.0878315166547e-5
allele num: 91926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13491C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-32C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.686C>T
  hgvsp: ENSP00000415419.1:p.Ala229Val
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1781C>T
  hgvsp: ENSP00000386799.1:p.Ala594Val
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1347C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1864C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-29C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1781C>T
  hgvsp: ENSP00000315569.7:p.Ala594Val
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala594Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

2-233194565-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194565
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194565
    reference: chr 2
allele count: 1
allele frequency: 1.058537101725416e-5
allele num: 94470
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1782C>G
  hgvsp: ENST00000325385.7:c.1782C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13490C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.687C>G
  hgvsp: ENST00000424049.1:c.687C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1782C>G
  hgvsp: ENST00000409307.1:c.1782C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1348C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-28C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-31C>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1865C>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31341
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala594Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

2-233194567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194567
    reference: chr 2
allele count: 1
allele frequency: 1.030757813144224e-5
allele num: 97016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1784A>G
  hgvsp: ENSP00000386799.1:p.His595Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.689A>G
  hgvsp: ENSP00000415419.1:p.His230Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-29A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1784A>G
  hgvsp: ENSP00000315569.7:p.His595Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1350A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13488A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-26A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1867A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His595Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

2-233194576-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194576
    reference: chr 2
allele count: 1
allele frequency: 9.469876323415216e-6
allele num: 105598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.698A>G
  hgvsp: ENSP00000415419.1:p.His233Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1793A>G
  hgvsp: ENSP00000386799.1:p.His598Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1793A>G
  hgvsp: ENSP00000315569.7:p.His598Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1359A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13479A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-20A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1876A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-17A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His598Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-233194578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194578
    reference: chr 2
allele count: 13
allele frequency: 1.21549854140175e-4
allele num: 106952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1361C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1795C>T
  hgvsp: ENSP00000386799.1:p.Arg599Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13477C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.700C>T
  hgvsp: ENSP00000415419.1:p.Arg234Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-18C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1878C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1795C>T
  hgvsp: ENSP00000315569.7:p.Arg599Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-15C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37872
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg599Cys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-233194579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194579
    reference: chr 2
allele count: 3
allele frequency: 2.759889604415823e-5
allele num: 108700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-14G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.701G>A
  hgvsp: ENSP00000415419.1:p.Arg234His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1362G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1796G>A
  hgvsp: ENSP00000315569.7:p.Arg599His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1879G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-17G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1796G>A
  hgvsp: ENSP00000386799.1:p.Arg599His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13476G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg599His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-233194580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194580
    reference: chr 2
allele count: 1
allele frequency: 9.1568383268625e-6
allele num: 109208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1797C>T
  hgvsp: ENST00000325385.7:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.702C>T
  hgvsp: ENST00000424049.1:c.702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1797C>T
  hgvsp: ENST00000409307.1:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-16C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-13C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1880C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13475C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1363C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg599Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

2-233194581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194581
    reference: chr 2
allele count: 1
allele frequency: 9.050592813829306e-6
allele num: 110490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13474G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1798G>A
  hgvsp: ENSP00000386799.1:p.Ala600Thr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-12G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-15G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.703G>A
  hgvsp: ENSP00000415419.1:p.Ala235Thr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1798G>A
  hgvsp: ENSP00000315569.7:p.Ala600Thr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1881G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1364G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala600Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-233194588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194588
    reference: chr 2
allele count: 1
allele frequency: 8.814455707360071e-6
allele num: 113450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1805C>T
  hgvsp: ENSP00000315569.7:p.Pro602Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1888C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-8C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13467C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1371C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.710C>T
  hgvsp: ENSP00000415419.1:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-5C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1805C>T
  hgvsp: ENSP00000386799.1:p.Pro602Leu
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro602Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-233194589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194589
    reference: chr 2
allele count: 3
allele frequency: 2.636759949374209e-5
allele num: 113776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1372C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.711C>T
  hgvsp: ENST00000424049.1:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1806C>T
  hgvsp: ENST00000409307.1:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1806C>T
  hgvsp: ENST00000325385.7:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13466C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-7C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-4C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1889C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
hgvs: c.*966-4C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-233194590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194590
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194590
    reference: chr 2
allele count: 4
allele frequency: 3.499562554680665e-5
allele num: 114300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1373G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.712G>A
  hgvsp: ENSP00000415419.1:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13465G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1807G>A
  hgvsp: ENSP00000386799.1:p.Glu603Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1807G>A
  hgvsp: ENSP00000315569.7:p.Glu603Lys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-6G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1890G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-3G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu603Lys
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

2-233194592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194592
    reference: chr 2
allele count: 4
allele frequency: 3.481288076588337e-5
allele num: 114900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*966-1G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1809G>A
  hgvsp: ENST00000325385.7:c.1809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1740-4G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13463G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1809G>A
  hgvsp: ENST00000409307.1:c.1809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1375G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1892G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.714G>A
  hgvsp: ENST00000424049.1:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
hgvs: c.*966-1G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-233194608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194608
    reference: chr 2
allele count: 15
allele frequency: 1.274729757291454e-4
allele num: 117672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1908C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13447C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1752C>T
  hgvsp: ENST00000390005.5:c.1752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1825C>T
  hgvsp: ENSP00000315569.7:p.Arg609Trp
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.730C>T
  hgvsp: ENSP00000415419.1:p.Arg244Trp
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1825C>T
  hgvsp: ENSP00000386799.1:p.Arg609Trp
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1391C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*981C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg609Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-233194609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194609
    reference: chr 2
allele count: 3
allele frequency: 2.546170559478544e-5
allele num: 117824
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1826G>A
  hgvsp: ENSP00000315569.7:p.Arg609Gln
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1392G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.731G>A
  hgvsp: ENSP00000415419.1:p.Arg244Gln
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1909G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13446G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1826G>A
  hgvsp: ENSP00000386799.1:p.Arg609Gln
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*982G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1753G>A
  hgvsp: ENSP00000374655.5:p.Gly585Ser
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg609Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-233194616-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194616
    reference: chr 2
allele count: 2
allele frequency: 1.685317513819604e-5
allele num: 118672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*989C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1760C>A
  hgvsp: ENSP00000374655.5:p.Pro587His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1833C>A
  hgvsp: ENST00000409307.1:c.1833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1399C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1833C>A
  hgvsp: ENST00000325385.7:c.1833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1916C>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.738C>A
  hgvsp: ENST00000424049.1:c.738C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13439C>A
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro587His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

2-233194618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194618
    reference: chr 2
allele count: 2
allele frequency: 1.683388324018585e-5
allele num: 118808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1835C>T
  hgvsp: ENSP00000386799.1:p.Pro612Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1918C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13437C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.740C>T
  hgvsp: ENSP00000415419.1:p.Pro247Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1762C>T
  hgvsp: ENSP00000374655.5:p.Arg588Cys
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1401C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1835C>T
  hgvsp: ENSP00000315569.7:p.Pro612Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*991C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro612Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-233194619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194619
    reference: chr 2
allele count: 1
allele frequency: 8.411843876177658e-6
allele num: 118880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1836G>A
  hgvsp: ENST00000325385.7:c.1836G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1402G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13436G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*992G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1836G>A
  hgvsp: ENST00000409307.1:c.1836G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.741G>A
  hgvsp: ENST00000424049.1:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1763G>A
  hgvsp: ENSP00000374655.5:p.Arg588His
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1919G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg588His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-233194619-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194619
    reference: chr 2
allele count: 2
allele frequency: 1.682368775235532e-5
allele num: 118880
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1836G>C
  hgvsp: ENST00000325385.7:c.1836G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1763G>C
  hgvsp: ENSP00000374655.5:p.Arg588Pro
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1836G>C
  hgvsp: ENST00000409307.1:c.1836G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1402G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*992G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1919G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.741G>C
  hgvsp: ENST00000424049.1:c.741G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13436G>C
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg588Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-233194622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194622
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194622
    reference: chr 2
allele count: 13
allele frequency: 1.091923128611746e-4
allele num: 119056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1766C>T
  hgvsp: ENSP00000374655.5:p.Pro589Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1405C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13433C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*995C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1922C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1839C>T
  hgvsp: ENST00000409307.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1839C>T
  hgvsp: ENST00000325385.7:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.744C>T
  hgvsp: ENST00000424049.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Pro589Leu
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

2-233194628-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194628
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194628
    reference: chr 2
allele count: 1
allele frequency: 8.382791804982731e-6
allele num: 119292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1411A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1001A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.750A>G
  hgvsp: ENST00000424049.1:c.750A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1772A>G
  hgvsp: ENSP00000374655.5:p.Gln591Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1845A>G
  hgvsp: ENST00000325385.7:c.1845A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1845A>G
  hgvsp: ENST00000409307.1:c.1845A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1928A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13427A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln591Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-233194631-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194631
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194631
    reference: chr 2
allele count: 1
allele frequency: 8.379560575843403e-6
allele num: 119338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1931G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1848G>T
  hgvsp: ENSP00000386799.1:p.Arg616Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1414G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1848G>T
  hgvsp: ENSP00000315569.7:p.Arg616Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13424G>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1775G>T
  hgvsp: ENSP00000374655.5:p.Gly592Val
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.753G>T
  hgvsp: ENSP00000415419.1:p.Arg251Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1004G>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg616Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-233194638-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194638
    reference: chr 2
allele count: 1
allele frequency: 8.374928813105088e-6
allele num: 119404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1421A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1782A>G
  hgvsp: ENST00000390005.5:c.1782A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.760A>G
  hgvsp: ENSP00000415419.1:p.Ser254Gly
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1855A>G
  hgvsp: ENSP00000315569.7:p.Ser619Gly
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1855A>G
  hgvsp: ENSP00000386799.1:p.Ser619Gly
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13417A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1938A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1011A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser619Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

2-233194639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194639
    reference: chr 2
allele count: 2
allele frequency: 1.674873547047198e-5
allele num: 119412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.761G>A
  hgvsp: ENSP00000415419.1:p.Ser254Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1856G>A
  hgvsp: ENSP00000386799.1:p.Ser619Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1856G>A
  hgvsp: ENSP00000315569.7:p.Ser619Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1783G>A
  hgvsp: ENSP00000374655.5:p.Val595Met
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1422G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13416G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1012G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1939G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser619Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-233194645-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194645
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194645
    reference: chr 2
allele count: 1
allele frequency: 8.371563473194253e-6
allele num: 119452
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1862T>C
  hgvsp: ENSP00000315569.7:p.Leu621Pro
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1428T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13410T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1945T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1789T>C
  hgvsp: ENSP00000374655.5:p.Trp597Arg
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.767T>C
  hgvsp: ENSP00000415419.1:p.Leu256Pro
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1018T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1862T>C
  hgvsp: ENSP00000386799.1:p.Leu621Pro
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47563
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu621Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-233194659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194659
    reference: chr 2
allele count: 2
allele frequency: 1.675547066117087e-5
allele num: 119364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1803G>A
  hgvsp: ENST00000390005.5:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1876G>A
  hgvsp: ENSP00000386799.1:p.Asp626Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1442G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13396G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1032G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.781G>A
  hgvsp: ENSP00000415419.1:p.Asp261Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1876G>A
  hgvsp: ENSP00000315569.7:p.Asp626Asn
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1959G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp626Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-233194667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194667
    reference: chr 2
allele count: 3
allele frequency: 2.517750138476258e-5
allele num: 119154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1040G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1884G>A
  hgvsp: ENSP00000386799.1:p.Met628Ile
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13388G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1884G>A
  hgvsp: ENSP00000315569.7:p.Met628Ile
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1811G>A
  hgvsp: ENSP00000374655.5:p.Trp604Ter
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1450G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1967G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.789G>A
  hgvsp: ENSP00000415419.1:p.Met263Ile
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp604Ter
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-233194673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194673
    reference: chr 2
allele count: 1
allele frequency: 8.404208827780952e-6
allele num: 118988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1817G>A
  hgvsp: ENSP00000374655.5:p.Cys606Tyr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1973G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.795G>A
  hgvsp: ENST00000424049.1:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13382G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1456G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1890G>A
  hgvsp: ENST00000409307.1:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1046G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1890G>A
  hgvsp: ENST00000325385.7:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys606Tyr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-233194673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194673
    reference: chr 2
allele count: 2
allele frequency: 1.68084176555619e-5
allele num: 118988
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1890G>C
  hgvsp: ENST00000325385.7:c.1890G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.795G>C
  hgvsp: ENST00000424049.1:c.795G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1046G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1890G>C
  hgvsp: ENST00000409307.1:c.1890G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1817G>C
  hgvsp: ENSP00000374655.5:p.Cys606Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13382G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1973G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1456G>C
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40274
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys606Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

2-233194676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194676
    reference: chr 2
allele count: 3
allele frequency: 2.524317592810744e-5
allele num: 118844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1976C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1820C>T
  hgvsp: ENSP00000374655.5:p.Pro607Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1893C>T
  hgvsp: ENST00000409307.1:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.798C>T
  hgvsp: ENST00000424049.1:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1049C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1459C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1893C>T
  hgvsp: ENST00000325385.7:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13379C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro607Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-233194677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194677
    reference: chr 2
allele count: 1
allele frequency: 8.421761832575375e-6
allele num: 118740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1894G>A
  hgvsp: ENSP00000386799.1:p.Val632Met
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1821G>A
  hgvsp: ENST00000390005.5:c.1821G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1050G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1977G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1460G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.799G>A
  hgvsp: ENSP00000415419.1:p.Val267Met
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13378G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1894G>A
  hgvsp: ENSP00000315569.7:p.Val632Met
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val632Met
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-233194691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194691
    reference: chr 2
allele count: 2
allele frequency: 1.694829076487636e-5
allele num: 118006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1474C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.813C>T
  hgvsp: ENST00000424049.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1991C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1835C>T
  hgvsp: ENSP00000374655.5:p.Pro612Leu
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13364C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1908C>T
  hgvsp: ENST00000409307.1:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1064C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1908C>T
  hgvsp: ENST00000325385.7:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro612Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

2-233194692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194692
    reference: chr 2
allele count: 5
allele frequency: 4.238078285782095e-5
allele num: 117978
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1909G>A
  hgvsp: ENSP00000315569.7:p.Ala637Thr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.814G>A
  hgvsp: ENSP00000415419.1:p.Ala272Thr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1836G>A
  hgvsp: ENST00000390005.5:c.1836G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13363G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1909G>A
  hgvsp: ENSP00000386799.1:p.Ala637Thr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1475G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1065G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1992G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala637Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-233194694-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194694
    reference: chr 2
allele count: 101
allele frequency: 8.568907591543082e-4
allele num: 117868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1994A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1911A>C
  hgvsp: ENST00000325385.7:c.1911A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1838A>C
  hgvsp: ENSP00000374655.5:p.Gln613Pro
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13361A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.816A>C
  hgvsp: ENST00000424049.1:c.816A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1477A>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1911A>C
  hgvsp: ENST00000409307.1:c.1911A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1067A>C
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 39027
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln613Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-233194696-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194696
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194696
    reference: chr 2
allele count: 1
allele frequency: 8.488676106074497e-6
allele num: 117804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.818G>C
  hgvsp: ENSP00000415419.1:p.Gly273Ala
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1913G>C
  hgvsp: ENSP00000386799.1:p.Gly638Ala
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*1996G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1069G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1913G>C
  hgvsp: ENSP00000315569.7:p.Gly638Ala
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13359G>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1840G>C
  hgvsp: ENSP00000374655.5:p.Glu614Gln
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1479G>C
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly638Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-233194701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194701
    reference: chr 2
allele count: 1
allele frequency: 8.508031581813232e-6
allele num: 117536
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1918C>T
  hgvsp: ENSP00000315569.7:p.Leu640Phe
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.823C>T
  hgvsp: ENSP00000415419.1:p.Leu275Phe
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1918C>T
  hgvsp: ENSP00000386799.1:p.Leu640Phe
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1074C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1484C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*2001C>T
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1845C>T
  hgvsp: ENST00000390005.5:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13354C>T
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu640Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

2-233194705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194705
    reference: chr 2
allele count: 1
allele frequency: 8.522533578782301e-6
allele num: 117336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*2005A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1922A>G
  hgvsp: ENSP00000315569.7:p.Asn641Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1488A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1922A>G
  hgvsp: ENSP00000386799.1:p.Asn641Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1849A>G
  hgvsp: ENSP00000374655.5:p.Ile617Val
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.827A>G
  hgvsp: ENSP00000415419.1:p.Asn276Ser
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1078A>G
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13350A>G
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn641Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-233194706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194706
    reference: chr 2
allele count: 7
allele frequency: 5.971167789814894e-5
allele num: 117230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1923T>C
  hgvsp: ENST00000325385.7:c.1923T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13349T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1079T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1489T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.828T>C
  hgvsp: ENST00000424049.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1923T>C
  hgvsp: ENST00000409307.1:c.1923T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1850T>C
  hgvsp: ENSP00000374655.5:p.Ile617Thr
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*2006T>C
  variant of: http://identifiers.org/hgnc/28648
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile617Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

2-233194709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194709
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194709
    reference: chr 2
allele count: 1
allele frequency: 8.541168431841476e-6
allele num: 117080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1489+3G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.828+3G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1923+3G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1850+3G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1923+3G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13346G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1079+3G>A
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*2006+3G>A
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43970
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1923+3G>A
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

2-233194715-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233194715
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233194715
    reference: chr 2
allele count: 2
allele frequency: 1.715383559763963e-5
allele num: 116592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000415419
  ensembl transcript: ENST00000424049
  gene symbol: DIS3L2
  hgvsc: ENST00000424049.1:c.828+9T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000273009
  ensembl transcript: ENST00000273009
  gene symbol: DIS3L2
  hgvsc: ENST00000273009.6:c.1582-13340T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000386799
  ensembl transcript: ENST00000409307
  gene symbol: DIS3L2
  hgvsc: ENST00000409307.1:c.1923+9T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000388999
  ensembl transcript: ENST00000445090
  gene symbol: DIS3L2
  hgvsc: ENST00000445090.1:c.*1079+9T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000315569
  ensembl transcript: ENST00000325385
  gene symbol: DIS3L2
  hgvsc: ENST00000325385.7:c.1923+9T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl transcript: ENST00000429283
  gene symbol: DIS3L2
  hgvsc: ENST00000429283.2:n.1489+9T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000374655
  ensembl transcript: ENST00000390005
  gene symbol: DIS3L2
  hgvsc: ENST00000390005.5:c.1850+9T>C
  variant of: http://identifiers.org/hgnc/28648
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144535
  ensembl protein: ENSP00000391175
  ensembl transcript: ENST00000433430
  gene symbol: DIS3L2
  hgvsc: ENST00000433430.1:c.*2006+9T>C
  variant of: http://identifiers.org/hgnc/28648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37013
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 886
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5450
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 38497
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516847842452347e-5
allele num: 66418
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.672786e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 2304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5449
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.867e0

VQSLOD
type: SiteQuality
SIO_000300: -1.343e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
SIO_000300: 1.673049e6

GenotypeQuality
all individuals: 2512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5453
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821272462360369e-4
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.673499e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1726
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5450
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.604618857440528e-4
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.673858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

FS
type: SiteQuality
SIO_000300: 4.605e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5448
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514536808523445e-5
allele num: 66452
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

DP
type: SiteQuality
SIO_000300: 1.674142e6

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5448
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.674328e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5448
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38507
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00724746639401e-5
allele num: 66506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

DP
type: SiteQuality
SIO_000300: 1.674328e6

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

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

GenotypeQuality
all individuals: 7213
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 18

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.08641975308642e-4
allele num: 9720
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.739130434782609e-4
allele num: 11500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.95559299596847e-4
allele num: 66476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

DP
type: SiteQuality
SIO_000300: 1.671035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

QD
type: SiteQuality
SIO_000300: 1.209e1

FS
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5455
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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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: 1166
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GenotypeQuality
all individuals: 1718
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.568545581071677e-4
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029866117404737e-4
allele num: 9710
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.66904e6

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 2487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1166
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variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.354605659241421e-4
allele num: 66440
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740341106856944e-4
allele num: 11492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.825261620832319e-4
allele num: 16436
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

DP
type: SiteQuality
SIO_000300: 1.668375e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.726e0

FS
type: SiteQuality
SIO_000300: 1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 1716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 884
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7186
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053740779768177e-4
allele num: 66430
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.118e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.667325e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2258
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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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variant carriers: 0

GenotypeQuality
all individuals: 1164
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GenotypeQuality
all individuals: 5443
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.666693e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 3.375e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.743e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 351
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36218
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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
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1711
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variant carriers: 0

GenotypeQuality
all individuals: 2249
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.189e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 2.594e0

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.656718e6

QD
type: SiteQuality
SIO_000300: 1.01e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517220452131695e-5
allele num: 65910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.595e0

DP
type: SiteQuality
SIO_000300: 1.608319e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 3021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1153
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 657
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GenotypeQuality
all individuals: 2330
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.352941176470588e-4
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.579e0

DP
type: SiteQuality
SIO_000300: 1.587517e6

MQRankSum
type: SiteQuality
SIO_000300: -5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

FS
type: SiteQuality
SIO_000300: 5.708e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
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bin: 2.75e1
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
all individuals: 6115
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GenotypeQuality
all individuals: 2323
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65844
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: 886
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 2.872e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.562e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.382e0

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

DP
type: SiteQuality
SIO_000300: 1.578804e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.56343170063888e-5
allele num: 65740
num of homozygotes: 0

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

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

Latino
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allele count: 11
allele frequency: 9.693338033133591e-4
allele num: 11348
num of homozygotes: 0

African
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allele count: 249
allele frequency: 2.590511860174782e-2
allele num: 9612
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

QD
type: SiteQuality
SIO_000300: 1.475e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

DP
type: SiteQuality
SIO_000300: 1.559655e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-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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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.782e0

MQ
type: SiteQuality
SIO_000300: 5.465e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.842000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.13462e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.97e-2

QD
type: SiteQuality
SIO_000300: 8.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.460207612456747e-4
allele num: 5780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.206e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.67e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

FS
type: SiteQuality
SIO_000300: 3.388e0

DP
type: SiteQuality
SIO_000300: 3.25397e5

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
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GenotypeQuality
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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: 3898
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.698e1

DP
type: SiteQuality
SIO_000300: 3.35251e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.278688524590164e-4
allele num: 6100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
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QD
type: SiteQuality
SIO_000300: 1.045e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.256281407035176e-3
allele num: 796
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 4.854368932038835e-3
allele num: 206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6734
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
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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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1942
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.856515373352855e-4
allele num: 6830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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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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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 207
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.849660523763337e-4
allele num: 8248
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.929e1

MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 1

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 3.935458480913026e-4
allele num: 10164
num of homozygotes: 0

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

African
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South Asian
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East Asian
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Other
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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

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
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SIO_000300: 6.889999999999999e-1

InbreedingCoeff
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MQRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 2.330567726298126e-5
allele num: 42908
num of homozygotes: 0

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

Latino
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Other
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South Asian
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allele num: 11350
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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allele frequency: 1.338488994646044e-3
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Other
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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FS
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DP
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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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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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DP
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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South Asian
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African
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13034
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 52684
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.364628820960699e-4
allele num: 7328
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.062e0

MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
type: SiteQuality
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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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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 680
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South Asian
type: Population
allele count: 1
allele frequency: 7.451564828614009e-5
allele num: 13420
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7414
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4500
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9446
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 54092
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VQSLOD
type: SiteQuality
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5174
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
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European (Non-Finnish)
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allele frequency: 1.70712554201236e-5
allele num: 58578
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

QD
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.249766e6

InbreedingCoeff
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SIO_000300: -1.2e-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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Other
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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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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 5.060387288307131e-5
allele num: 59284
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5290
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Latino
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allele count: 8
allele frequency: 7.629219912263971e-4
allele num: 10486
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African
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allele count: 2
allele frequency: 2.426595486532395e-4
allele num: 8242
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.495e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.008e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

DP
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SIO_000300: 1.269264e6

FS
type: SiteQuality
SIO_000300: 0.0e0

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

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.662289304830613e-5
allele num: 60158
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.212415130940834e-4
allele num: 8248
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Latino
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allele count: 1
allele frequency: 9.389671361502347e-5
allele num: 10650
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.264e-1

MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.654478673769895e-5
allele num: 60442
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5468
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 10798
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.635911529904463e-5
allele num: 61128
num of homozygotes: 0

African
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Other
type: Population
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 62734
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South Asian
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Other
type: Population
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Latino
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East Asian
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African
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allele num: 8842
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European (Finnish)
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allele count: 0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11082
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European (Non-Finnish)
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allele frequency: 3.179650238473768e-5
allele num: 62900
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South Asian
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allele frequency: 6.34437254155564e-5
allele num: 15762
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
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FS
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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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: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63154
num of homozygotes: 0

South Asian
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allele frequency: 1.261034047919294e-4
allele num: 15860
num of homozygotes: 1

Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 2.364066193853428e-4
allele num: 8460
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ReadPosRankSum
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DP
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15924
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.305369021721996e-5
allele num: 63438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11178
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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QD
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SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
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SIO_000300: 1.362541e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.159360829194558e-4
allele num: 64834
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 6.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 1.401089e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.621214455158816e-5
allele num: 64918
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 2.684e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.402557e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
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African
type: Population
allele count: 1
allele frequency: 1.048218029350105e-4
allele num: 9540
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 872
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DP
type: SiteQuality
SIO_000300: 1.414329e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

FS
type: SiteQuality
SIO_000300: 1.302e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

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

Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.046682018002931e-4
allele num: 9554
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-5
allele num: 65440
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East Asian
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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Latino
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allele frequency: 8.709284096847239e-5
allele num: 11482
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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QD
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VQSLOD
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DP
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MQ
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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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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variant carriers: 2

European (Non-Finnish)
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allele count: 2
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allele num: 65478
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South Asian
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Latino
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Other
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East Asian
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European (Finnish)
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African
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ReadPosRankSum
type: SiteQuality
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FS
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MQRankSum
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VQSLOD
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QD
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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allele frequency: 1.516211803125729e-3
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6530
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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QD
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DP
type: SiteQuality
SIO_000300: 1.420598e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 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
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65704
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.408e0

DP
type: SiteQuality
SIO_000300: 1.423198e6

MQ
type: SiteQuality
SIO_000300: 5.853e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.377e0

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

FS
type: SiteQuality
SIO_000300: 4.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

DP
type: SiteQuality
SIO_000300: 1.423916e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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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: 11
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variant carriers: 0

GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 569
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variant carriers: 1

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520496289989052e-5
allele num: 65768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 3.617e0

DP
type: SiteQuality
SIO_000300: 1.424928e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 211
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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: 41
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variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.328830926874709e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65770
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 5.216e0

MQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

DP
type: SiteQuality
SIO_000300: 1.425346e6

GenotypeQuality
all individuals: 728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

DP
type: SiteQuality
SIO_000300: 1.425821e6

FS
type: SiteQuality
SIO_000300: 8.760999999999999e0

QD
type: SiteQuality
SIO_000300: 1.245e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.553e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
all individuals: 47265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 1597
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 725
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6602
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.285e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
SIO_000300: 1.119e1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 1.424328e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.8516232563881e-4
allele num: 16202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.868e0

FS
type: SiteQuality
SIO_000300: 4.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.420761e6

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 46660
bin: 6.25e1
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: 9638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522626225714112e-5
allele num: 65676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.233e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

FS
type: SiteQuality
SIO_000300: 1.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.418293e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 122
bin: 3.75e1
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GenotypeQuality
all individuals: 726
bin: 8.25e1
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GenotypeQuality
all individuals: 46660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.75e1
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GenotypeQuality
all individuals: 18
bin: 1.25e1
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GenotypeQuality
all individuals: 1754
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.045252451428223e-5
allele num: 65676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.233e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.418293e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.570801718621446e-5
allele num: 65634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.416699e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

GenotypeQuality
all individuals: 6503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524669146795145e-5
allele num: 65588
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.414857e6

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.354e1

FS
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6377
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GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 157
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.061474406073965e-5
allele num: 65328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

DP
type: SiteQuality
SIO_000300: 1.400469e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 1.165e0

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 6361
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GenotypeQuality
all individuals: 2126
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GenotypeQuality
all individuals: 720
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 45237
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.437491953135059e-5
allele num: 15534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.593055300385817e-5
allele num: 65316
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.400498e6

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
all individuals: 661
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variant carriers: 101

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 230
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GenotypeQuality
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GenotypeQuality
all individuals: 225
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GenotypeQuality
all individuals: 44974
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.576659038901602e-3
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.838010047788261e-4
allele num: 65288
num of homozygotes: 0

South Asian
type: Population
allele count: 83
allele frequency: 5.361757105943153e-3
allele num: 15480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044277360066834e-4
allele num: 9576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.211e0

QD
type: SiteQuality
SIO_000300: 1.136e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

DP
type: SiteQuality
SIO_000300: 1.4004e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
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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
all individuals: 212
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GenotypeQuality
all individuals: 572
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 1720
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532379171902295e-5
allele num: 65258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 1.397078e6

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534636751480924e-5
allele num: 65162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 1.391526e6

MQ
type: SiteQuality
SIO_000300: 5.819e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

QD
type: SiteQuality
SIO_000300: 8.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: -2.223e0

FS
type: SiteQuality
SIO_000300: 9.59e0

GenotypeQuality
all individuals: 719
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 570
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44315
bin: 6.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 6279
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GenotypeQuality
all individuals: 1704
bin: 7.25e1
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GenotypeQuality
all individuals: 499
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.574621959237344e-5
allele num: 15210
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.386584e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.991e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.764e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
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GenotypeQuality
all individuals: 44021
bin: 6.25e1
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GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 3063
bin: 2.25e1
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GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 6269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.223390518354546e-5
allele num: 65052
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.596306068601583e-5
allele num: 15160
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

FS
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 1.384487e6

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
all individuals: 218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6246
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1691
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538461538461538e-5
allele num: 65000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.381175e6

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 1.551e0

QD
type: SiteQuality
SIO_000300: 1.175e1