12-109947552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109947552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109947552
    reference: chr 12
allele count: 6
allele frequency: 5.128994204236549e-5
allele num: 116982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1741+33G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1741+33G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1741+33G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1741+33G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1265+33G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1741+33G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-597G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38710
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-109947556-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109947556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109947556
    reference: chr 12
allele count: 1
allele frequency: 8.579714123925391e-6
allele num: 116554
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1741+37C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1741+37C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-593C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1265+37C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1741+37C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1741+37C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1741+37C>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-109947561-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109947561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109947561
    reference: chr 12
allele count: 1
allele frequency: 8.626639061421671e-6
allele num: 115920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1741+42C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1741+42C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1265+42C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1741+42C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1741+42C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1741+42C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-588C>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-109947563-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109947563
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109947563
    reference: chr 12
allele count: 1
allele frequency: 8.626787901792646e-6
allele num: 115918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1741+44C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1741+44C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-586C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1741+44C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1741+44C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1265+44C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1741+44C>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-109947565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109947565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109947565
    reference: chr 12
allele count: 1
allele frequency: 8.636175210722675e-6
allele num: 115792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1741+46G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1741+46G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1741+46G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1265+46G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1741+46G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-584G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1741+46G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

12-109948100-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948100
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948100
    reference: chr 12
allele count: 1
allele frequency: 2.897039225911119e-5
allele num: 34518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1742-49T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1742-49T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1742-49T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1742-49T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1266-49T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-49T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1742-49T>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

12-109948115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948115
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948115
    reference: chr 12
allele count: 62
allele frequency: 1.743728203397457e-3
allele num: 35556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-34C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1742-34C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1742-34C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1266-34C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1742-34C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1742-34C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1742-34C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27209
  bin: 7.5e0
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12714
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-109948130-CTGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948126
    reference: chr 12
allele count: 1
allele frequency: 2.561475409836066e-5
allele num: 39040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1742-11_1742-8delTTGT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1742-11_1742-8delTTGT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1742-11_1742-8delTTGT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1266-11_1266-8delTTGT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1742-11_1742-8delTTGT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1742-11_1742-8delTTGT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-11_451-8delTTGT
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32116
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7936
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: CTGTT
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-109948132-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948132
    reference: chr 12
allele count: 4
allele frequency: 1.008064516129032e-4
allele num: 39680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1742-17G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1742-17G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1742-17G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-17G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1742-17G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1742-17G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1266-17G>C
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-109948135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948135
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948135
    reference: chr 12
allele count: 1
allele frequency: 2.441525465110601e-5
allele num: 40958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1742-14T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-14T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1742-14T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1742-14T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1266-14T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1742-14T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1742-14T>C
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-109948138-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948138
    reference: chr 12
allele count: 1
allele frequency: 2.35094978371262e-5
allele num: 42536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1742-11T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1742-11T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.451-11T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1266-11T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1742-11T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1742-11T>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1742-11T>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-109948153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948153
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948153
    reference: chr 12
allele count: 2
allele frequency: 3.594407102548435e-5
allele num: 55642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1270C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1746C>T
  hgvsp: ENST00000449510.2:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1746C>T
  hgvsp: ENST00000280774.5:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1746C>T
  hgvsp: ENST00000434735.2:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1746C>T
  hgvsp: ENST00000342494.3:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1746C>T
  hgvsp: ENST00000539599.1:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.455C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn582Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-109948154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948154
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948154
    reference: chr 12
allele count: 1
allele frequency: 1.728011059270779e-5
allele num: 57870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.456G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1747G>A
  hgvsp: ENSP00000280774.5:p.Ala583Thr
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1271G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1747G>A
  hgvsp: ENSP00000395802.2:p.Ala583Thr
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1747G>A
  hgvsp: ENSP00000340596.3:p.Ala583Thr
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1747G>A
  hgvsp: ENSP00000391529.2:p.Ala583Thr
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1747G>A
  hgvsp: ENSP00000443131.1:p.Ala583Thr
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala583Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-109948167-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948167
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948167
    reference: chr 12
allele count: 5
allele frequency: 6.699180020365507e-5
allele num: 74636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1760C>G
  hgvsp: ENSP00000391529.2:p.Thr587Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.469C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1760C>G
  hgvsp: ENSP00000443131.1:p.Thr587Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1284C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1760C>G
  hgvsp: ENSP00000280774.5:p.Thr587Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1760C>G
  hgvsp: ENSP00000340596.3:p.Thr587Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1760C>G
  hgvsp: ENSP00000395802.2:p.Thr587Ser
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr587Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-109948192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948192
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948192
    reference: chr 12
allele count: 6
allele frequency: 6.249218847644044e-5
allele num: 96012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.494C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1309C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1785C>T
  hgvsp: ENST00000539599.1:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1785C>T
  hgvsp: ENST00000434735.2:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1785C>T
  hgvsp: ENST00000342494.3:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1785C>T
  hgvsp: ENST00000280774.5:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1785C>T
  hgvsp: ENST00000449510.2:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33281
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37007
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His595His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-109948193-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948193
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948193
    reference: chr 12
allele count: 5
allele frequency: 5.161556725508413e-5
allele num: 96870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.495G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1310G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1786G>T
  hgvsp: ENSP00000340596.3:p.Gly596Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1786G>T
  hgvsp: ENSP00000443131.1:p.Gly596Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1786G>T
  hgvsp: ENSP00000280774.5:p.Gly596Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1786G>T
  hgvsp: ENSP00000391529.2:p.Gly596Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1786G>T
  hgvsp: ENSP00000395802.2:p.Gly596Trp
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33621
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.25e1
  variant carriers: 2
hgvs: p.Gly596Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

12-109948195-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948195
    reference: chr 12
allele count: 1
allele frequency: 1.023981650248828e-5
allele num: 97658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.497G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1788G>T
  hgvsp: ENST00000434735.2:c.1788G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1312G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1788G>T
  hgvsp: ENST00000449510.2:c.1788G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1788G>T
  hgvsp: ENST00000342494.3:c.1788G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1788G>T
  hgvsp: ENST00000539599.1:c.1788G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1788G>T
  hgvsp: ENST00000280774.5:c.1788G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly596Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-109948206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948206
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948206
    reference: chr 12
allele count: 7
allele frequency: 6.911395904504256e-5
allele num: 101282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.508T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1799T>C
  hgvsp: ENSP00000443131.1:p.Val600Ala
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1799T>C
  hgvsp: ENSP00000395802.2:p.Val600Ala
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1799T>C
  hgvsp: ENSP00000391529.2:p.Val600Ala
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1799T>C
  hgvsp: ENSP00000280774.5:p.Val600Ala
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1323T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1799T>C
  hgvsp: ENSP00000340596.3:p.Val600Ala
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34973
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val600Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-109948210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948210
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948210
    reference: chr 12
allele count: 2
allele frequency: 1.972542212403345e-5
allele num: 101392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1803G>A
  hgvsp: ENST00000342494.3:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1803G>A
  hgvsp: ENST00000280774.5:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1803G>A
  hgvsp: ENST00000449510.2:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1803G>A
  hgvsp: ENST00000434735.2:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.512G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1803G>A
  hgvsp: ENST00000539599.1:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11357
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu601Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-109948213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948213
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948213
    reference: chr 12
allele count: 906
allele frequency: 8.901027646238187e-3
allele num: 101786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1806C>T
  hgvsp: ENST00000449510.2:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1806C>T
  hgvsp: ENST00000434735.2:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1330C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1806C>T
  hgvsp: ENST00000539599.1:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1806C>T
  hgvsp: ENST00000342494.3:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1806C>T
  hgvsp: ENST00000280774.5:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.515C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 9499
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 1.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 33636
  bin: 2.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 2.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Tyr602Tyr
num of homozygotes: 3
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-109948217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948217
    reference: chr 12
allele count: 2
allele frequency: 1.979805979014057e-5
allele num: 101020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.519C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1810C>T
  hgvsp: ENSP00000340596.3:p.Arg604Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1810C>T
  hgvsp: ENSP00000443131.1:p.Arg604Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1810C>T
  hgvsp: ENSP00000280774.5:p.Arg604Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1810C>T
  hgvsp: ENSP00000395802.2:p.Arg604Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1810C>T
  hgvsp: ENSP00000391529.2:p.Arg604Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1334C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg604Trp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-109948217-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948217
    reference: chr 12
allele count: 1
allele frequency: 9.899029895070284e-6
allele num: 101020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1810C>G
  hgvsp: ENSP00000443131.1:p.Arg604Gly
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1810C>G
  hgvsp: ENSP00000391529.2:p.Arg604Gly
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1810C>G
  hgvsp: ENSP00000340596.3:p.Arg604Gly
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.519C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1810C>G
  hgvsp: ENSP00000395802.2:p.Arg604Gly
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1810C>G
  hgvsp: ENSP00000280774.5:p.Arg604Gly
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1334C>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg604Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-109948218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948218
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948218
    reference: chr 12
allele count: 1
allele frequency: 9.881813510415432e-6
allele num: 101196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1811G>A
  hgvsp: ENSP00000340596.3:p.Arg604Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1811G>A
  hgvsp: ENSP00000443131.1:p.Arg604Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1811G>A
  hgvsp: ENSP00000280774.5:p.Arg604Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1811G>A
  hgvsp: ENSP00000391529.2:p.Arg604Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1811G>A
  hgvsp: ENSP00000395802.2:p.Arg604Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.520G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1335G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32444
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg604Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-109948220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948220
    reference: chr 12
allele count: 2
allele frequency: 1.989060169070114e-5
allele num: 100550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1813G>C
  hgvsp: ENSP00000395802.2:p.Asp605His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1337G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1813G>C
  hgvsp: ENSP00000391529.2:p.Asp605His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.522G>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1813G>C
  hgvsp: ENSP00000340596.3:p.Asp605His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1813G>C
  hgvsp: ENSP00000280774.5:p.Asp605His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1813G>C
  hgvsp: ENSP00000443131.1:p.Asp605His
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp605His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-109948226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948226
    reference: chr 12
allele count: 9
allele frequency: 9.063991781980784e-5
allele num: 99294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1819C>T
  hgvsp: ENSP00000391529.2:p.Arg607Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1819C>T
  hgvsp: ENSP00000280774.5:p.Arg607Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1819C>T
  hgvsp: ENSP00000340596.3:p.Arg607Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.528C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1819C>T
  hgvsp: ENSP00000443131.1:p.Arg607Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1343C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1819C>T
  hgvsp: ENSP00000395802.2:p.Arg607Trp
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29859
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg607Trp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-109948227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948227
    reference: chr 12
allele count: 11
allele frequency: 1.109721157338283e-4
allele num: 99124
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1820G>A
  hgvsp: ENSP00000340596.3:p.Arg607Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1820G>A
  hgvsp: ENSP00000395802.2:p.Arg607Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1820G>A
  hgvsp: ENSP00000391529.2:p.Arg607Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1820G>A
  hgvsp: ENSP00000280774.5:p.Arg607Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.529G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1344G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1820G>A
  hgvsp: ENSP00000443131.1:p.Arg607Gln
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29620
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10671
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg607Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-109948228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948228
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948228
    reference: chr 12
allele count: 3
allele frequency: 3.031466623552475e-5
allele num: 98962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1821G>A
  hgvsp: ENST00000449510.2:c.1821G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1821G>A
  hgvsp: ENST00000342494.3:c.1821G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1345G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1821G>A
  hgvsp: ENST00000539599.1:c.1821G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1821G>A
  hgvsp: ENST00000434735.2:c.1821G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1821G>A
  hgvsp: ENST00000280774.5:c.1821G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.530G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg607Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-109948229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948229
    reference: chr 12
allele count: 5
allele frequency: 5.075832944186141e-5
allele num: 98506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.531C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1822C>T
  hgvsp: ENSP00000391529.2:p.Arg608Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1346C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1822C>T
  hgvsp: ENSP00000280774.5:p.Arg608Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1822C>T
  hgvsp: ENSP00000395802.2:p.Arg608Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1822C>T
  hgvsp: ENSP00000340596.3:p.Arg608Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1822C>T
  hgvsp: ENSP00000443131.1:p.Arg608Trp
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29039
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg608Trp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-109948230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948230
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948230
    reference: chr 12
allele count: 2
allele frequency: 2.029220779220779e-5
allele num: 98560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1823G>A
  hgvsp: ENSP00000340596.3:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1823G>A
  hgvsp: ENSP00000391529.2:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1823G>A
  hgvsp: ENSP00000443131.1:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1823G>A
  hgvsp: ENSP00000395802.2:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1823G>A
  hgvsp: ENSP00000280774.5:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1347G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.532G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29133
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg608Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-109948232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948232
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948232
    reference: chr 12
allele count: 8
allele frequency: 8.190679007289704e-5
allele num: 97672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1825C>T
  hgvsp: ENSP00000280774.5:p.Arg609Cys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1349C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1825C>T
  hgvsp: ENSP00000340596.3:p.Arg609Cys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1825C>T
  hgvsp: ENSP00000443131.1:p.Arg609Cys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1825C>T
  hgvsp: ENSP00000395802.2:p.Arg609Cys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1825C>T
  hgvsp: ENSP00000391529.2:p.Arg609Cys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.534C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28274
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg609Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-109948233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948233
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948233
    reference: chr 12
allele count: 1
allele frequency: 1.024422225864612e-5
allele num: 97616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.535G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1826G>A
  hgvsp: ENSP00000340596.3:p.Arg609His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1826G>A
  hgvsp: ENSP00000280774.5:p.Arg609His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1826G>A
  hgvsp: ENSP00000395802.2:p.Arg609His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1826G>A
  hgvsp: ENSP00000391529.2:p.Arg609His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1826G>A
  hgvsp: ENSP00000443131.1:p.Arg609His
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1350G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33301
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg609His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-109948238-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948238
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948237
    reference: chr 12
allele count: 1
allele frequency: 1.058940635787958e-5
allele num: 94434
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1836delC
  hgvsp: ENSP00000340596.3:p.Glu613ArgfsTer27
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.545delC
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1836delC
  hgvsp: ENSP00000443131.1:p.Glu613ArgfsTer27
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1836delC
  hgvsp: ENSP00000395802.2:p.Glu613ArgfsTer27
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1360delC
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1836delC
  hgvsp: ENSP00000280774.5:p.Glu613ArgfsTer27
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1836delC
  hgvsp: ENSP00000391529.2:p.Glu613ArgfsTer27
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu613ArgfsTer27
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: AC
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-109948239-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948239
    reference: chr 12
allele count: 1
allele frequency: 1.058111482625809e-5
allele num: 94508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1832C>A
  hgvsp: ENSP00000340596.3:p.Thr611Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1356C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1832C>A
  hgvsp: ENSP00000443131.1:p.Thr611Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.541C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1832C>A
  hgvsp: ENSP00000280774.5:p.Thr611Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1832C>A
  hgvsp: ENSP00000391529.2:p.Thr611Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1832C>A
  hgvsp: ENSP00000395802.2:p.Thr611Asn
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr611Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-109948239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948239
    reference: chr 12
allele count: 1
allele frequency: 1.058111482625809e-5
allele num: 94508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.541C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1832C>T
  hgvsp: ENSP00000391529.2:p.Thr611Ile
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1832C>T
  hgvsp: ENSP00000395802.2:p.Thr611Ile
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1832C>T
  hgvsp: ENSP00000280774.5:p.Thr611Ile
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1832C>T
  hgvsp: ENSP00000340596.3:p.Thr611Ile
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1832C>T
  hgvsp: ENSP00000443131.1:p.Thr611Ile
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1356C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr611Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-109948240-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948240
    reference: chr 12
allele count: 1
allele frequency: 1.058245851676261e-5
allele num: 94496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.542C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1833C>A
  hgvsp: ENST00000449510.2:c.1833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1833C>A
  hgvsp: ENST00000342494.3:c.1833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1357C>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1833C>A
  hgvsp: ENST00000434735.2:c.1833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1833C>A
  hgvsp: ENST00000539599.1:c.1833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1833C>A
  hgvsp: ENST00000280774.5:c.1833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18305
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Thr611Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-109948243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948243
    reference: chr 12
allele count: 11
allele frequency: 1.177100053504548e-4
allele num: 93450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1836C>T
  hgvsp: ENST00000449510.2:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1836C>T
  hgvsp: ENST00000539599.1:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1836C>T
  hgvsp: ENST00000280774.5:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.545C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1836C>T
  hgvsp: ENST00000434735.2:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1836C>T
  hgvsp: ENST00000342494.3:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1360C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24125
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro612Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

12-109948244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948244
    reference: chr 12
allele count: 1
allele frequency: 1.080730573867935e-5
allele num: 92530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1361G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1837G>A
  hgvsp: ENSP00000391529.2:p.Glu613Lys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1837G>A
  hgvsp: ENSP00000280774.5:p.Glu613Lys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1837G>A
  hgvsp: ENSP00000443131.1:p.Glu613Lys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1837G>A
  hgvsp: ENSP00000395802.2:p.Glu613Lys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1837G>A
  hgvsp: ENSP00000340596.3:p.Glu613Lys
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.546G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu613Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-109948258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948258
    reference: chr 12
allele count: 1
allele frequency: 1.20328255480952e-5
allele num: 83106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1851G>A
  hgvsp: ENST00000280774.5:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1851G>A
  hgvsp: ENST00000434735.2:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1851G>A
  hgvsp: ENST00000342494.3:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1375G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1851G>A
  hgvsp: ENST00000449510.2:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1851G>A
  hgvsp: ENST00000539599.1:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.560G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17037
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu617Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-109948259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948259
    reference: chr 12
allele count: 2
allele frequency: 2.414584087890861e-5
allele num: 82830
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1852C>T
  hgvsp: ENSP00000340596.3:p.Arg618Ter
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1852C>T
  hgvsp: ENSP00000443131.1:p.Arg618Ter
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1852C>T
  hgvsp: ENSP00000391529.2:p.Arg618Ter
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.561C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1376C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1852C>T
  hgvsp: ENSP00000280774.5:p.Arg618Ter
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1852C>T
  hgvsp: ENSP00000395802.2:p.Arg618Ter
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg618Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

12-109948269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948269
    reference: chr 12
allele count: 6
allele frequency: 7.72837343500438e-5
allele num: 77636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+6C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+6C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+6C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+6C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+6C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+6C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+6C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1856+6C>T
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-109948274-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948274
    reference: chr 12
allele count: 3
allele frequency: 4.103518082836352e-5
allele num: 73108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+11G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+11G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+11G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+11G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+11G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+11G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+11G>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS

12-109948284-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948284
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948284
    reference: chr 12
allele count: 2
allele frequency: 2.936857562408223e-5
allele num: 68100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+21G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+21G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+21G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+21G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+21G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+21G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+21G>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20965
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-109948286-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948286
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948286
    reference: chr 12
allele count: 5
allele frequency: 7.4360499702558e-5
allele num: 67240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+23G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+23G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+23G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+23G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+23G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+23G>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+23G>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20844
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

12-109948289-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948289
    reference: chr 12
allele count: 22
allele frequency: 3.418484678973212e-4
allele num: 64356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+26C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+26C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+26C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+26C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+26C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+26C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+26C>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21480
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20178
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-109948296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948296
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948296
    reference: chr 12
allele count: 1
allele frequency: 1.622375807131964e-5
allele num: 61638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+33A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+33A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+33A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+33A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+33A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+33A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+33A>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-109948303-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948303
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948303
    reference: chr 12
allele count: 18
allele frequency: 3.173707595740179e-4
allele num: 56716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+40C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+40C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+40C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+40C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+40C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+40C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+40C>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23741
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17214
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 9305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24126
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-109948309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948309
    reference: chr 12
allele count: 1
allele frequency: 1.949925902815693e-5
allele num: 51284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+46C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+46C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+46C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+46C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+46C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+46C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+46C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

12-109948310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948310
    reference: chr 12
allele count: 1
allele frequency: 1.945449593401035e-5
allele num: 51402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+47G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+47G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+47G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+47G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+47G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+47G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+47G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14890
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26086
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5581
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-109948314-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948314
    reference: chr 12
allele count: 1
allele frequency: 2.045659111365682e-5
allele num: 48884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+51C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+51C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+51C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+51C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+51C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+51C>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+51C>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-109948314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948314
    reference: chr 12
allele count: 1
allele frequency: 2.045659111365682e-5
allele num: 48884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+51C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+51C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+51C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+51C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+51C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+51C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+51C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9482
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-109948315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948315
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948315
    reference: chr 12
allele count: 1
allele frequency: 2.094328558264221e-5
allele num: 47748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1856+52G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1856+52G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.565+52G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1856+52G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1380+52G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1856+52G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1856+52G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26826
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-109948977-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948977
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948977
    reference: chr 12
allele count: 1
allele frequency: 9.786842568850437e-6
allele num: 102178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-32A>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-32A>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-32A>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-32A>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-32A>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-32A>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-32A>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-109948981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948981
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948981
    reference: chr 12
allele count: 1
allele frequency: 9.628345850182938e-6
allele num: 103860
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-28C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-28C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-28C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-28C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-28C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-28C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-28C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27522
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-109948983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948983
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948983
    reference: chr 12
allele count: 2
allele frequency: 1.901393721597931e-5
allele num: 105186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-26C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-26C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-26C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-26C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-26C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-26C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-26C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-109948986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948986
    reference: chr 12
allele count: 1
allele frequency: 9.299557341070565e-6
allele num: 107532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-23A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-23A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-23A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-23A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-23A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-23A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-23A>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7242
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

12-109948989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948989
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948989
    reference: chr 12
allele count: 1
allele frequency: 9.126752336448597e-6
allele num: 109568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-20C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-20C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-20C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-20C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-20C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-20C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-20C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-109948993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948993
    reference: chr 12
allele count: 1
allele frequency: 8.881310170876408e-6
allele num: 112596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-16T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-16T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-16T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-16T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-16T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-16T>C
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-16T>C
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38032
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

12-109948996-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948997
    reference: chr 12
allele count: 1
allele frequency: 8.765932081558232e-6
allele num: 114078
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-10dupT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-10dupT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-10dupT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-10dupT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-10dupT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-10dupT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-10dupT
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

12-109948997-T-TTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948997
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949000
    reference: chr 12
allele count: 1
allele frequency: 8.722197993894462e-6
allele num: 114650
alternate allele: TTTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-7_1381-5dupTCT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-7_1857-5dupTCT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-7_1857-5dupTCT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-7_1857-5dupTCT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-7_1857-5dupTCT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-7_566-5dupTCT
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-7_1857-5dupTCT
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-109948998-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109948998
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109948998
    reference: chr 12
allele count: 1
allele frequency: 8.691117677733357e-6
allele num: 115060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1857-11T>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1857-11T>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1857-11T>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.566-11T>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1381-11T>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1857-11T>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1857-11T>G
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

12-109949017-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949017
    reference: chr 12
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1865A>G
  hgvsp: ENSP00000395802.2:p.Lys622Arg
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1865A>G
  hgvsp: ENSP00000280774.5:p.Lys622Arg
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1865A>G
  hgvsp: ENSP00000443131.1:p.Lys622Arg
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1389A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1865A>G
  hgvsp: ENSP00000391529.2:p.Lys622Arg
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.574A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1865A>G
  hgvsp: ENSP00000340596.3:p.Lys622Arg
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys622Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-109949019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949019
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949019
    reference: chr 12
allele count: 2
allele frequency: 1.666055779547499e-5
allele num: 120044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1867C>T
  hgvsp: ENSP00000443131.1:p.Pro623Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1867C>T
  hgvsp: ENSP00000340596.3:p.Pro623Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1867C>T
  hgvsp: ENSP00000280774.5:p.Pro623Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1867C>T
  hgvsp: ENSP00000391529.2:p.Pro623Ser
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1391C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.576C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1867C>T
  hgvsp: ENSP00000395802.2:p.Pro623Ser
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro623Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-109949023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949023
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949023
    reference: chr 12
allele count: 2
allele frequency: 1.662565671344018e-5
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1395G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1871G>A
  hgvsp: ENSP00000280774.5:p.Ser624Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.580G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1871G>A
  hgvsp: ENSP00000395802.2:p.Ser624Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1871G>A
  hgvsp: ENSP00000443131.1:p.Ser624Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1871G>A
  hgvsp: ENSP00000340596.3:p.Ser624Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1871G>A
  hgvsp: ENSP00000391529.2:p.Ser624Asn
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser624Asn
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

12-109949024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949024
    reference: chr 12
allele count: 2
allele frequency: 1.660936435962596e-5
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1872C>T
  hgvsp: ENST00000280774.5:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1872C>T
  hgvsp: ENST00000342494.3:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1872C>T
  hgvsp: ENST00000539599.1:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1872C>T
  hgvsp: ENST00000434735.2:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.581C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1872C>T
  hgvsp: ENST00000449510.2:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1396C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser624Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

12-109949025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949025
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949025
    reference: chr 12
allele count: 3
allele frequency: 2.489048187972919e-5
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.582G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1873G>A
  hgvsp: ENSP00000340596.3:p.Val625Met
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1873G>A
  hgvsp: ENSP00000280774.5:p.Val625Met
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1873G>A
  hgvsp: ENSP00000395802.2:p.Val625Met
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1397G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1873G>A
  hgvsp: ENSP00000443131.1:p.Val625Met
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1873G>A
  hgvsp: ENSP00000391529.2:p.Val625Met
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val625Met
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-109949036-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949036
    reference: chr 12
allele count: 3
allele frequency: 2.480856060731356e-5
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1884A>G
  hgvsp: ENST00000449510.2:c.1884A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1884A>G
  hgvsp: ENST00000342494.3:c.1884A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1884A>G
  hgvsp: ENST00000280774.5:c.1884A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1408A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1884A>G
  hgvsp: ENST00000539599.1:c.1884A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.593A>G
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1884A>G
  hgvsp: ENST00000434735.2:c.1884A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln628Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

12-109949042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949042
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949042
    reference: chr 12
allele count: 63
allele frequency: 5.204976949387796e-4
allele num: 121038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1890C>T
  hgvsp: ENST00000342494.3:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1890C>T
  hgvsp: ENST00000449510.2:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1890C>T
  hgvsp: ENST00000539599.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1890C>T
  hgvsp: ENST00000280774.5:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.599C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1414C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1890C>T
  hgvsp: ENST00000434735.2:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu630Leu
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-109949043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949043
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949043
    reference: chr 12
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1891G>A
  hgvsp: ENSP00000340596.3:p.Asp631Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1891G>A
  hgvsp: ENSP00000280774.5:p.Asp631Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.600G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1415G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1891G>A
  hgvsp: ENSP00000395802.2:p.Asp631Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1891G>A
  hgvsp: ENSP00000443131.1:p.Asp631Asn
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1891G>A
  hgvsp: ENSP00000391529.2:p.Asp631Asn
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4544
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp631Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-109949045-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949043
    reference: chr 12
allele count: 3
allele frequency: 2.477905344015859e-5
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.603_604delAG
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1894_1895delAG
  hgvsp: ENSP00000443131.1:p.Arg632GlyfsTer67
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1894_1895delAG
  hgvsp: ENSP00000395802.2:p.Arg632GlyfsTer64
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1418_1419delAG
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1894_1895delAG
  hgvsp: ENSP00000391529.2:p.Arg632GlyfsTer67
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1894_1895delAG
  hgvsp: ENSP00000340596.3:p.Arg632GlyfsTer67
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1894_1895delAG
  hgvsp: ENSP00000280774.5:p.Arg632GlyfsTer64
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg632GlyfsTer67
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: CAG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum

12-109949048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949048
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949048
    reference: chr 12
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1896G>A
  hgvsp: ENST00000342494.3:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1896G>A
  hgvsp: ENST00000280774.5:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1896G>A
  hgvsp: ENST00000449510.2:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1896G>A
  hgvsp: ENST00000434735.2:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1420G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1896G>A
  hgvsp: ENST00000539599.1:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.605G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg632Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

12-109949058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949058
    reference: chr 12
allele count: 2
allele frequency: 1.651145895251304e-5
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1906C>T
  hgvsp: ENSP00000340596.3:p.Arg636Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1906C>T
  hgvsp: ENSP00000395802.2:p.Arg636Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.615C>T
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1906C>T
  hgvsp: ENSP00000280774.5:p.Arg636Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1906C>T
  hgvsp: ENSP00000391529.2:p.Arg636Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1906C>T
  hgvsp: ENSP00000443131.1:p.Arg636Trp
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1430C>T
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg636Trp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-109949059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109949059
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 109949059
    reference: chr 12
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000340596
  ensembl transcript: ENST00000342494
  gene symbol: UBE3B
  hgvsc: ENST00000342494.3:c.1907G>A
  hgvsp: ENSP00000340596.3:p.Arg636Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000443131
  ensembl transcript: ENST00000539599
  gene symbol: UBE3B
  hgvsc: ENST00000539599.1:c.1907G>A
  hgvsp: ENSP00000443131.1:p.Arg636Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000535900
  gene symbol: UBE3B
  hgvsc: ENST00000535900.1:n.616G>A
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000280774
  ensembl transcript: ENST00000280774
  gene symbol: UBE3B
  hgvsc: ENST00000280774.5:c.1907G>A
  hgvsp: ENSP00000280774.5:p.Arg636Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000391529
  ensembl transcript: ENST00000434735
  gene symbol: UBE3B
  hgvsc: ENST00000434735.2:c.1907G>A
  hgvsp: ENSP00000391529.2:p.Arg636Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151148
  ensembl protein: ENSP00000395802
  ensembl transcript: ENST00000449510
  gene symbol: UBE3B
  hgvsc: ENST00000449510.2:c.1907G>A
  hgvsp: ENSP00000395802.2:p.Arg636Gln
  variant of: http://identifiers.org/hgnc/13478
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151148
  ensembl transcript: ENST00000539584
  gene symbol: UBE3B
  hgvsc: ENST00000539584.1:n.1431G>A
  variant of: http://identifiers.org/hgnc/13478
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg636Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.86324125941665e-4
allele num: 10354
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522394421946838e-5
allele num: 65686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 2.981856e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

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

GenotypeQuality
all individuals: 2350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2792
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12978
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.819e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 2.980646e6

QD
type: SiteQuality
SIO_000300: 1.444e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.622e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

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

GenotypeQuality
all individuals: 2083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2030
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.992327365728901e-5
allele num: 12512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

FS
type: SiteQuality
SIO_000300: 1.529e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

DP
type: SiteQuality
SIO_000300: 2.977854e6

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.754e1

DP
type: SiteQuality
SIO_000300: 2.977714e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.028e0

VQSLOD
type: SiteQuality
SIO_000300: -1.854e-1

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 629
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12422
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.731e1

FS
type: SiteQuality
SIO_000300: 1.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 2.977217e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

GenotypeQuality
all individuals: 8606
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1440
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.181347150259067e-4
allele num: 1930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.442e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 1.949e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 5.78615e5

VQSLOD
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

GenotypeQuality
all individuals: 21115
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 833
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 639
bin: 9.75e1
variant carriers: 102

GenotypeQuality
all individuals: 1527
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2444
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6489
bin: 6.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16656
num of homozygotes: 0

Latino
type: Population
allele count: 60
allele frequency: 4.580152671755725e-2
allele num: 1310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.690431519699812e-4
allele num: 4264
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

DP
type: SiteQuality
SIO_000300: 6.20276e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.355612682090831e-5
allele num: 18672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

DP
type: SiteQuality
SIO_000300: 6.8589e5

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.575464762104821e-4
allele num: 19042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.1654395842356e-4
allele num: 4618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

MQ
type: SiteQuality
SIO_000300: 5.873e1

FS
type: SiteQuality
SIO_000300: 2.334e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 6.9503e5

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.678e-1

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6370
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1758
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.123142250530786e-4
allele num: 4710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.08603e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 2.402e0

QD
type: SiteQuality
SIO_000300: 1.363e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

GenotypeQuality
all individuals: 520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.821600771456124e-5
allele num: 20740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 9.815e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

QD
type: SiteQuality
SIO_000300: 1.031e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

DP
type: SiteQuality
SIO_000300: 7.24918e5

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

GenotypeQuality
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.949697796841489e-4
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.44135e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

FS
type: SiteQuality
SIO_000300: 1.988e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.406e0

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
all individuals: 1007
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.341129301703976e-5
allele num: 29930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.411e-1

DP
type: SiteQuality
SIO_000300: 8.65477e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.356e0

QD
type: SiteQuality
SIO_000300: 7.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 564
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25306
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 9.98502246630055e-4
allele num: 4006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.811594202898551e-3
allele num: 552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 9.99383e5

GenotypeQuality
all individuals: 280
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.762085700312253e-5
allele num: 53162
num of homozygotes: 0

Latino
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: 13042
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.41643059490085e-3
allele num: 706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.747189607794155e-4
allele num: 8006
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 8.698e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

DP
type: SiteQuality
SIO_000300: 1.190081e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.606876616461281e-5
allele num: 13146
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.343724805159903e-4
allele num: 7442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.594301271771156e-5
allele num: 53626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.406e0

DP
type: SiteQuality
SIO_000300: 1.198679e6

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 226
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12537
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.23395853899309e-4
allele num: 8104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

QD
type: SiteQuality
SIO_000300: 9.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 1.202847e6

FS
type: SiteQuality
SIO_000300: 5.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 478
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.878156184523599e-5
allele num: 56318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.081548777849881e-4
allele num: 9246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.377410468319559e-3
allele num: 726
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 6.377e0

DP
type: SiteQuality
SIO_000300: 1.233232e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.152852529601722e-4
allele num: 9290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.233793e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

FS
type: SiteQuality
SIO_000300: 1.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 420
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 809
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 788
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1376
bin: 9.75e1
variant carriers: 871

GenotypeQuality
all individuals: 459
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 692
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 38399
bin: 6.25e1
variant carriers: 5

African
type: Population
allele count: 19
allele frequency: 2.273815222594543e-3
allele num: 8356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.132231404958678e-3
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 34
allele frequency: 2.498897545200647e-3
allele num: 13606
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.965702036441586e-3
allele num: 9330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 45
allele frequency: 8.317929759704251e-3
allele num: 5410
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 768
allele frequency: 1.35621953803772e-2
allele num: 56628
num of homozygotes: 2

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.244143e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 923
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.559732308130429e-5
allele num: 56184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 5.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 9.75e0

DP
type: SiteQuality
SIO_000300: 1.223517e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeQuality
all individuals: 37099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.204819277108434e-4
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 5.756e0

DP
type: SiteQuality
SIO_000300: 1.223517e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.202501202501203e-4
allele num: 8316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

FS
type: SiteQuality
SIO_000300: 1.307e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

DP
type: SiteQuality
SIO_000300: 1.224619e6

QD
type: SiteQuality
SIO_000300: 2.219e1

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.479289940828402e-4
allele num: 13520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 1.211588e6

FS
type: SiteQuality
SIO_000300: 3.627e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
all individuals: 569
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.4004400440044e-4
allele num: 9090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.940993788819876e-4
allele num: 5152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.254788160185723e-5
allele num: 55136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.212e1

DP
type: SiteQuality
SIO_000300: 1.192464e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34751
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.203128442388191e-4
allele num: 9078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.818247936288592e-5
allele num: 54998
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.056803170409511e-3
allele num: 7570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2245e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.381e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.188883e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

QD
type: SiteQuality
SIO_000300: 7.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.463684708967728e-5
allele num: 54908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 1.184013e6

FS
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.181998021760633e-4
allele num: 8088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.382e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 7.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 1.177759e6

GenotypeQuality
all individuals: 719
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14924
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 817
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.659920213739341e-5
allele num: 54646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.741e1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 4.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 1.177244e6

VQSLOD
type: SiteQuality
SIO_000300: -3.041e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32887
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.492760113449768e-4
allele num: 13398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.108647450110865e-4
allele num: 54120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 9.81e0

FS
type: SiteQuality
SIO_000300: 5.116e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.162459e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15692
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.848565513161786e-5
allele num: 54096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.575e0

MQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.233e-1

QD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.162823e6

GenotypeQuality
all individuals: 655
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.916810427448725e-5
allele num: 52170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.117112e6

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 1.643e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.709e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 904
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29278
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.284026707755521e-4
allele num: 7788
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.117239e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 3.849e0

QD
type: SiteQuality
SIO_000300: 9.92e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 675
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.284026707755521e-4
allele num: 7788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

DP
type: SiteQuality
SIO_000300: 1.117239e6

QD
type: SiteQuality
SIO_000300: 9.92e0

FS
type: SiteQuality
SIO_000300: 3.849e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.914755102822349e-5
allele num: 52226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.525e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

DP
type: SiteQuality
SIO_000300: 1.117453e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 2.97e0

MQ
type: SiteQuality
SIO_000300: 5.744e1

GenotypeQuality
all individuals: 2435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.75e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 6.087353523055851e-4
allele num: 13142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.811250581125058e-5
allele num: 51624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.076e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 2.718e0

DP
type: SiteQuality
SIO_000300: 1.102487e6

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

GenotypeQuality
all individuals: 1757
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27634
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.201345506967804e-4
allele num: 8324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 6.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.085463e6

VQSLOD
type: SiteQuality
SIO_000300: -1.821e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

QD
type: SiteQuality
SIO_000300: 4.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

GenotypeQuality
all individuals: 1384
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.197802197802198e-5
allele num: 45500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.289e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.424e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

DP
type: SiteQuality
SIO_000300: 9.25087e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
all individuals: 16331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.411116012351125e-5
allele num: 45340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3950
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 9.24339e5

QD
type: SiteQuality
SIO_000300: 8.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 11263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.930966469428008e-4
allele num: 12168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.045e0

DP
type: SiteQuality
SIO_000300: 8.43521e5

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeQuality
all individuals: 3950
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11816
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.4249547920434e-4
allele num: 5530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 7.94784e5

FS
type: SiteQuality
SIO_000300: 1.255e0

GenotypeQuality
all individuals: 6653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.741856819369448e-4
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 3.123e0

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e0

DP
type: SiteQuality
SIO_000300: 7.46358e5

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

GenotypeQuality
all individuals: 30070
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.38288920056101e-4
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.41128e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.634e0

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 5.456e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

GenotypeQuality
all individuals: 2236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 28091
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 526
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4080
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 3.472222222222222e-3
allele num: 2880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 3.483309143686502e-4
allele num: 34450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

QD
type: SiteQuality
SIO_000300: 1.436e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.19308e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8015
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.041917624870719e-5
allele num: 32874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 6.95665e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 4340
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 489
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 647
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.684203462622467e-4
allele num: 29804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 3.97456279809221e-3
allele num: 2516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 7.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.038e0

QD
type: SiteQuality
SIO_000300: 1.496e1

DP
type: SiteQuality
SIO_000300: 6.67559e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 5584
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9698
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6439
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26538
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.024291497975708e-4
allele num: 4940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 8.69e0

DP
type: SiteQuality
SIO_000300: 6.46374e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

GenotypeQuality
all individuals: 19956
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6064
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.755163349605708e-5
allele num: 26630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.57e1

DP
type: SiteQuality
SIO_000300: 6.45769e5

GenotypeQuality
all individuals: 6080
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9403
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.120441051738762e-4
allele num: 4716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25148
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 6.41634e5

GenotypeQuality
all individuals: 4133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16099
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9403
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.976459360585335e-5
allele num: 25148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.41634e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 4113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9215
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10991
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.095004095004095e-5
allele num: 24420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.41774e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.118e1

GenotypeQuality
all individuals: 3942
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22572
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4527
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.770412860279017e-5
allele num: 56484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.034e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.342873e6

VQSLOD
type: SiteQuality
SIO_000300: -4.833e0

FS
type: SiteQuality
SIO_000300: 2.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.845e0

GenotypeQuality
all individuals: 672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27298
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.129688206055129e-4
allele num: 8852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.392946e6

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4536
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.374003847210772e-4
allele num: 7278
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719867914144194e-5
allele num: 58144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

DP
type: SiteQuality
SIO_000300: 1.424137e6

QD
type: SiteQuality
SIO_000300: 1.044e1

FS
type: SiteQuality
SIO_000300: 1.486e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

GenotypeQuality
all individuals: 34086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.681407001378754e-5
allele num: 59474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

DP
type: SiteQuality
SIO_000300: 1.468618e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.38e0

QD
type: SiteQuality
SIO_000300: 6.8e0

VQSLOD
type: SiteQuality
SIO_000300: -2.606e-1

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.074113856068743e-4
allele num: 9310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14542
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.811e0

FS
type: SiteQuality
SIO_000300: 2.059e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 6.06e0

DP
type: SiteQuality
SIO_000300: 1.506852e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.338812103100486e-5
allele num: 10708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.536e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

DP
type: SiteQuality
SIO_000300: 1.550585e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 959
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.223390518354546e-5
allele num: 10842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e0

MQ
type: SiteQuality
SIO_000300: 6.055e1

QD
type: SiteQuality
SIO_000300: 1.004e1

DP
type: SiteQuality
SIO_000300: 1.572513e6

GenotypeQuality
all individuals: 3662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4540
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 948
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.558237145855194e-5
allele num: 15248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

FS
type: SiteQuality
SIO_000300: 1.499e0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.654e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.579252e6

QD
type: SiteQuality
SIO_000300: 1.919e1

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 498
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4540
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575547502757208e-5
allele num: 63470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.584631e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 845
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4541
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 981
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.650117e6

FS
type: SiteQuality
SIO_000300: 7.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 955
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024528929619212e-5
allele num: 66126
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.502e0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.652968e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.548e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

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

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

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.947798987144527e-4
allele num: 10268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.68e-1

FS
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.623e0

QD
type: SiteQuality
SIO_000300: 1.217e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.65665e6

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 2.068e0

QD
type: SiteQuality
SIO_000300: 1.23e1

DP
type: SiteQuality
SIO_000300: 1.658723e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47859
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748251748251748e-4
allele num: 11440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.608e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.660521e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.513e1

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

GenotypeQuality
all individuals: 4169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006072265977274e-5
allele num: 66532
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.102770657878677e-5
allele num: 16386
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.525e0

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

DP
type: SiteQuality
SIO_000300: 1.666852e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 9.75e1
variant carriers: 62

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 6.014341892204488e-3
allele num: 8646
num of homozygotes: 1

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

South Asian
type: Population
allele count: 9
allele frequency: 5.479785679493425e-4
allele num: 16424
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

QD
type: SiteQuality
SIO_000300: 1.242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.98e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

DP
type: SiteQuality
SIO_000300: 1.671254e6

GenotypeQuality
all individuals: 48245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.25e1
variant carriers: 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: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.669687e6

FS
type: SiteQuality
SIO_000300: 1.737e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 1011
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4545
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505722267279445e-5
allele num: 66582
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 1.670112e6

FS
type: SiteQuality
SIO_000300: 3.303e0

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48351
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.984e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -5.456e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.671e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.97e0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48308
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4546
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 2.404e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

DP
type: SiteQuality
SIO_000300: 1.671672e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.4e0