8-103250934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250934
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250934
    reference: chr 8
allele count: 1
allele frequency: 3.862196817549822e-5
allele num: 25892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+121C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+121C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+121C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.70C>T
  hgvsp: ENST00000522368.1:c.70C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+121C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+121C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.92C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+121C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala24Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

8-103250937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250937
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 27290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+118C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.67C>T
  hgvsp: ENST00000522368.1:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+118C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.89C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+118C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+118C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+118C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+118C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32436
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Pro23Pro
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

8-103250937-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250937
    reference: chr 8
allele count: 1
allele frequency: 3.664345914254306e-5
allele num: 27290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+118C>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+118C>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+118C>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.89C>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.67C>A
  hgvsp: ENST00000522368.1:c.67C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+118C>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+118C>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+118C>A
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro23Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-103250939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250939
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250939
    reference: chr 8
allele count: 1
allele frequency: 3.520383017672322e-5
allele num: 28406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+116C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+116C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+116C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+116C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+116C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.65C>T
  hgvsp: ENSP00000428115.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.87C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+116C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro23Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

8-103250940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250940
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250940
    reference: chr 8
allele count: 1
allele frequency: 3.500420050406049e-5
allele num: 28568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+115G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+115G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+115G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+115G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.64G>A
  hgvsp: ENST00000522368.1:c.64G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.86G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+115G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+115G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro22Pro
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

8-103250943-A-ACAGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250943
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250947
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 30800
alternate allele: ACAGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+108_48+111dupCCTG
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.57_60dupCCTG
  hgvsp: ENSP00000428115.1:p.Pro22LeufsTer63
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+108_48+111dupCCTG
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+108_48+111dupCCTG
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+108_48+111dupCCTG
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+108_48+111dupCCTG
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.79_82dupCCTG
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+108_48+111dupCCTG
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34022
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro22LeufsTer63
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

8-103250954-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250954
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250954
    reference: chr 8
allele count: 1
allele frequency: 2.596323605774224e-5
allele num: 38516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.50G>C
  hgvsp: ENSP00000428115.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+101G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+101G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.72G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+101G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+101G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+101G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+101G>C
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly18Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-103250954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250954
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250954
    reference: chr 8
allele count: 1
allele frequency: 2.596323605774224e-5
allele num: 38516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+101G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+101G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+101G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.72G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+101G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+101G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+101G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.50G>A
  hgvsp: ENSP00000428115.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly18Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-103250959-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250959
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250959
    reference: chr 8
allele count: 115
allele frequency: 2.619948056682007e-3
allele num: 43894
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+96G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.67G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+96G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.45G>C
  hgvsp: ENSP00000428115.1:p.Arg16Pro
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+96G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+96G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+96G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+96G>C
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 1.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34428
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg16Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS

8-103250961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250961
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250961
    reference: chr 8
allele count: 2
allele frequency: 4.259850905218317e-5
allele num: 46950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+94G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.43G>A
  hgvsp: ENST00000522368.1:c.43G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+94G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.65G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+94G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+94G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+94G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+94G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro15Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-103250967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250967
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250967
    reference: chr 8
allele count: 13
allele frequency: 2.153387444094749e-4
allele num: 60370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+88T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+88T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+88T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+88T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.37T>C
  hgvsp: ENST00000522368.1:c.37T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+88T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.59T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+88T>C
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18536
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr13Tyr
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

8-103250970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250970
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250970
    reference: chr 8
allele count: 1
allele frequency: 1.535768037595602e-5
allele num: 65114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+85T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.34T>C
  hgvsp: ENST00000522368.1:c.34T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+85T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+85T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+85T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.56T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+85T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+85T>C
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys12Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

8-103250972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250972
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250972
    reference: chr 8
allele count: 1
allele frequency: 1.443543032017785e-5
allele num: 69274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+83T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.54T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+83T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+83T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+83T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.32T>C
  hgvsp: ENSP00000428115.1:p.Cys12Arg
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+83T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+83T>C
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23469
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys12Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-103250983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250983
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250983
    reference: chr 8
allele count: 1
allele frequency: 1.096202753661317e-5
allele num: 91224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.43G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+72G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+72G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.21G>A
  hgvsp: ENSP00000428115.1:p.Arg8His
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+72G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+72G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+72G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+72G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg8His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-103250984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250984
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250984
    reference: chr 8
allele count: 2
allele frequency: 2.120486015394728e-5
allele num: 94318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+71C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+71C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+71C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.42C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+71C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+71C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.20C>T
  hgvsp: ENSP00000428115.1:p.Arg8Cys
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+71C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36622
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg8Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-103250984-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250984
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250984
    reference: chr 8
allele count: 1
allele frequency: 1.060243007697364e-5
allele num: 94318
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+71C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.20C>G
  hgvsp: ENSP00000428115.1:p.Arg8Gly
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+71C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+71C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.42C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+71C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+71C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+71C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg8Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-103250985-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250985
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250985
    reference: chr 8
allele count: 2
allele frequency: 2.076972604731344e-5
allele num: 96294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.19C>G
  hgvsp: ENSP00000428115.1:p.Asp7Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+70C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+70C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+70C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+70C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.41C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+70C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+70C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp7Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-103250990-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250990
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250990
    reference: chr 8
allele count: 1
allele frequency: 9.675297031618871e-6
allele num: 103356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+65C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+65C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.36C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+65C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+65C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.14C>G
  hgvsp: ENSP00000428115.1:p.Gln6Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+65C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+65C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln6Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

8-103250991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250991
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250991
    reference: chr 8
allele count: 11600
allele frequency: 1.080778906177211e-1
allele num: 107330
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+64G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+64G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+64G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.13G>A
  hgvsp: ENST00000522368.1:c.13G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.35G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+64G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+64G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+64G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 687
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 7.5e0
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.25e1
  variant carriers: 1749
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 534
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 2.75e1
  variant carriers: 2054
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.75e1
  variant carriers: 1224
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 35115
  bin: 2.25e1
  variant carriers: 1852
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 1196
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 398
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 578
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 33972
  bin: 6.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.75e1
  variant carriers: 19
hgvs: p.Leu5Leu
num of homozygotes: 758
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

8-103250992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250992
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250992
    reference: chr 8
allele count: 2
allele frequency: 1.834626745188691e-5
allele num: 109014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+63T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.34T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+63T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.12T>C
  hgvsp: ENSP00000428115.1:p.Leu5Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+63T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+63T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+63T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+63T>C
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu5Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

8-103250996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250996
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250996
    reference: chr 8
allele count: 1
allele frequency: 8.961055253866696e-6
allele num: 111594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.30A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.8A>G
  hgvsp: ENSP00000428115.1:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+59A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+59A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+59A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+59A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+59A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+59A>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys4Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

8-103250997-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250997
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250997
    reference: chr 8
allele count: 3
allele frequency: 2.679001982461467e-5
allele num: 111982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+58C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+58C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+58C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+58C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.7C>G
  hgvsp: ENSP00000428115.1:p.Cys3Trp
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.29C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+58C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+58C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys3Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/8-103250999-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103250999
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103250999
    reference: chr 8
allele count: 1
allele frequency: 8.849244274538954e-6
allele num: 113004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+56T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.5T>G
  hgvsp: ENSP00000428115.1:p.Cys3Gly
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.27T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+56T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+56T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+56T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+56T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+56T>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys3Gly
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: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

8-103251000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251000
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251000
    reference: chr 8
allele count: 1
allele frequency: 8.847365254627173e-6
allele num: 113028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+55T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+55T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+55T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.26T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+55T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.4T>C
  hgvsp: ENST00000522368.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+55T>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+55T>C
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp2Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

8-103251003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251003
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251003
    reference: chr 8
allele count: 1
allele frequency: 8.738203425375743e-6
allele num: 114440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000428115
  ensembl transcript: ENST00000522368
  gene symbol: RRM2B
  hgvsc: ENST00000522368.1:c.1A>G
  hgvsp: ENST00000522368.1:c.1A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+52A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+52A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+52A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+52A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.23A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+52A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+52A>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: coding sequence
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter1Ter
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

8-103251007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251007
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251007
    reference: chr 8
allele count: 130
allele frequency: 1.12371205310836e-3
allele num: 115688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+48C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+48C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+48C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+48C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+48C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.19C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+48C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39634
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-103251022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251022
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251022
    reference: chr 8
allele count: 1
allele frequency: 8.466253513495208e-6
allele num: 118116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.4G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+33G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+33G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+33G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+33G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+33G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+33G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-103251023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251023
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251023
    reference: chr 8
allele count: 1
allele frequency: 8.456659619450317e-6
allele num: 118250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+32C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+32C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+32C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+32C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+32C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+32C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048392
  ensembl transcript: ENST00000517517
  gene symbol: RRM2B
  hgvsc: ENST00000517517.1:n.3C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

8-103251029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251029
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251029
    reference: chr 8
allele count: 1
allele frequency: 8.422471153036301e-6
allele num: 118730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+26C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+26C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+26C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+26C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+26C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+26C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-103251030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251030
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251030
    reference: chr 8
allele count: 1
allele frequency: 8.418217021634817e-6
allele num: 118790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+25C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+25C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+25C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+25C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+25C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+25C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-103251034-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251034
    reference: chr 8
allele count: 905
allele frequency: 7.605169834787139e-3
allele num: 118998
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+21T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+21T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+21T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+21T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+21T>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+21T>G
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 2.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 39846
  bin: 2.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.75e1
  variant carriers: 836
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 3
num of homozygotes: 41
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

8-103251034-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251034
    reference: chr 8
allele count: 1
allele frequency: 8.403502579875292e-6
allele num: 118998
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+21T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+21T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+21T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+21T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+21T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+21T>A
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

8-103251038-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251038
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251038
    reference: chr 8
allele count: 2
allele frequency: 1.680079299742948e-5
allele num: 119042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+17C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+17C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+17C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+17C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+17C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+17C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-103251039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251039
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251039
    reference: chr 8
allele count: 1
allele frequency: 8.398138972403716e-6
allele num: 119074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+16G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+16G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+16G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+16G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+16G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+16G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

8-103251041-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251041
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251041
    reference: chr 8
allele count: 1
allele frequency: 8.393627557957998e-6
allele num: 119138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.48+14T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.48+14T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.48+14T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.48+14T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.48+14T>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.48+14T>A
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

8-103251056-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251056
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251056
    reference: chr 8
allele count: 1
allele frequency: 8.395318770253707e-6
allele num: 119114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.47A>T
  hgvsp: ENSP00000427830.1:p.Glu16Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.47A>T
  hgvsp: ENSP00000251810.3:p.Glu16Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.47A>T
  hgvsp: ENSP00000429140.1:p.Glu16Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.47A>T
  hgvsp: ENSP00000430641.1:p.Glu16Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.47A>T
  hgvsp: ENSP00000379248.2:p.Glu16Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.47A>T
  hgvsp: ENSP00000429578.1:p.Glu16Val
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu16Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-103251056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251056
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251056
    reference: chr 8
allele count: 2
allele frequency: 1.679063754050741e-5
allele num: 119114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.47A>G
  hgvsp: ENSP00000429140.1:p.Glu16Gly
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.47A>G
  hgvsp: ENSP00000430641.1:p.Glu16Gly
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.47A>G
  hgvsp: ENSP00000379248.2:p.Glu16Gly
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.47A>G
  hgvsp: ENSP00000427830.1:p.Glu16Gly
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.47A>G
  hgvsp: ENSP00000251810.3:p.Glu16Gly
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.47A>G
  hgvsp: ENSP00000429578.1:p.Glu16Gly
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu16Gly
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: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

8-103251063-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251063
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251063
    reference: chr 8
allele count: 1
allele frequency: 8.403502579875292e-6
allele num: 118998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.40C>G
  hgvsp: ENSP00000251810.3:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.40C>G
  hgvsp: ENSP00000430641.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.40C>G
  hgvsp: ENSP00000379248.2:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.40C>G
  hgvsp: ENSP00000429140.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.40C>G
  hgvsp: ENSP00000427830.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.40C>G
  hgvsp: ENSP00000429578.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln14Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

8-103251071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251071
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251071
    reference: chr 8
allele count: 4
allele frequency: 3.367116737937304e-5
allele num: 118796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.32G>A
  hgvsp: ENSP00000427830.1:p.Gly11Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.32G>A
  hgvsp: ENSP00000430641.1:p.Gly11Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.32G>A
  hgvsp: ENSP00000251810.3:p.Gly11Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.32G>A
  hgvsp: ENSP00000379248.2:p.Gly11Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.32G>A
  hgvsp: ENSP00000429578.1:p.Gly11Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.32G>A
  hgvsp: ENSP00000429140.1:p.Gly11Glu
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly11Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

8-103251077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251077
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251077
    reference: chr 8
allele count: 1
allele frequency: 8.41651657212113e-6
allele num: 118814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.26C>T
  hgvsp: ENSP00000429578.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.26C>T
  hgvsp: ENSP00000251810.3:p.Ala9Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.26C>T
  hgvsp: ENSP00000379248.2:p.Ala9Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.26C>T
  hgvsp: ENSP00000429140.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.26C>T
  hgvsp: ENSP00000430641.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.26C>T
  hgvsp: ENSP00000427830.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala9Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-103251084-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251084
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251084
    reference: chr 8
allele count: 2
allele frequency: 1.68713726548792e-5
allele num: 118544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.19C>G
  hgvsp: ENSP00000427830.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.19C>G
  hgvsp: ENSP00000379248.2:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.19C>G
  hgvsp: ENSP00000430641.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.19C>G
  hgvsp: ENSP00000429140.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.19C>G
  hgvsp: ENSP00000429578.1:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.19C>G
  hgvsp: ENSP00000251810.3:p.Pro7Ala
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro7Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-103251084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251084
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251084
    reference: chr 8
allele count: 1
allele frequency: 8.435686327439601e-6
allele num: 118544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.19C>T
  hgvsp: ENSP00000429578.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.19C>T
  hgvsp: ENSP00000429140.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.19C>T
  hgvsp: ENSP00000379248.2:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.19C>T
  hgvsp: ENSP00000430641.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.19C>T
  hgvsp: ENSP00000427830.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.19C>T
  hgvsp: ENSP00000251810.3:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro7Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

8-103251089-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251089
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251089
    reference: chr 8
allele count: 1
allele frequency: 8.447372867038351e-6
allele num: 118380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.14A>C
  hgvsp: ENSP00000251810.3:p.Glu5Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.14A>C
  hgvsp: ENSP00000429578.1:p.Glu5Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.14A>C
  hgvsp: ENSP00000379248.2:p.Glu5Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.14A>C
  hgvsp: ENSP00000430641.1:p.Glu5Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.14A>C
  hgvsp: ENSP00000427830.1:p.Glu5Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.14A>C
  hgvsp: ENSP00000429140.1:p.Glu5Ala
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu5Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

8-103251090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251090
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251090
    reference: chr 8
allele count: 1
allele frequency: 8.454657670910904e-6
allele num: 118278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.13G>A
  hgvsp: ENSP00000251810.3:p.Glu5Lys
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.13G>A
  hgvsp: ENSP00000427830.1:p.Glu5Lys
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.13G>A
  hgvsp: ENSP00000430641.1:p.Glu5Lys
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.13G>A
  hgvsp: ENSP00000379248.2:p.Glu5Lys
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.13G>A
  hgvsp: ENSP00000429578.1:p.Glu5Lys
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.13G>A
  hgvsp: ENSP00000429140.1:p.Glu5Lys
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu5Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

8-103251091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251091
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251091
    reference: chr 8
allele count: 2
allele frequency: 1.690845761049677e-5
allele num: 118284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.12G>A
  hgvsp: ENST00000523957.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.12G>A
  hgvsp: ENST00000395912.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.12G>A
  hgvsp: ENST00000519317.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.12G>A
  hgvsp: ENST00000519962.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.12G>A
  hgvsp: ENST00000522394.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.12G>A
  hgvsp: ENST00000251810.3:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro4Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

8-103251092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251092
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251092
    reference: chr 8
allele count: 1
allele frequency: 8.457660949287865e-6
allele num: 118236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.11C>T
  hgvsp: ENSP00000429140.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.11C>T
  hgvsp: ENSP00000430641.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.11C>T
  hgvsp: ENSP00000427830.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.11C>T
  hgvsp: ENSP00000251810.3:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.11C>T
  hgvsp: ENSP00000379248.2:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.11C>T
  hgvsp: ENSP00000429578.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro4Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-103251093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251093
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251093
    reference: chr 8
allele count: 5
allele frequency: 4.230619531924255e-5
allele num: 118186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.10C>T
  hgvsp: ENSP00000429140.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.10C>T
  hgvsp: ENSP00000251810.3:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.10C>T
  hgvsp: ENSP00000430641.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.10C>T
  hgvsp: ENSP00000379248.2:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.10C>T
  hgvsp: ENSP00000427830.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.10C>T
  hgvsp: ENSP00000429578.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro4Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS

8-103251093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251093
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251093
    reference: chr 8
allele count: 1
allele frequency: 8.46123906384851e-6
allele num: 118186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.10C>G
  hgvsp: ENSP00000429140.1:p.Pro4Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.10C>G
  hgvsp: ENSP00000430641.1:p.Pro4Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.10C>G
  hgvsp: ENSP00000427830.1:p.Pro4Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.10C>G
  hgvsp: ENSP00000251810.3:p.Pro4Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.10C>G
  hgvsp: ENSP00000379248.2:p.Pro4Ala
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.10C>G
  hgvsp: ENSP00000429578.1:p.Pro4Ala
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37978
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro4Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

8-103251094-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251094
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251094
    reference: chr 8
allele count: 1
allele frequency: 8.470269354565475e-6
allele num: 118060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.9C>G
  hgvsp: ENSP00000379248.2:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.9C>G
  hgvsp: ENSP00000427830.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.9C>G
  hgvsp: ENSP00000251810.3:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.9C>G
  hgvsp: ENSP00000429578.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.9C>G
  hgvsp: ENSP00000430641.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.9C>G
  hgvsp: ENSP00000429140.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45010
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp3Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

8-103251096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251096
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251096
    reference: chr 8
allele count: 1
allele frequency: 8.478743789320174e-6
allele num: 117942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.7G>A
  hgvsp: ENSP00000430641.1:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.7G>A
  hgvsp: ENSP00000379248.2:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.7G>A
  hgvsp: ENSP00000251810.3:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.7G>A
  hgvsp: ENSP00000427830.1:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.7G>A
  hgvsp: ENSP00000429578.1:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.7G>A
  hgvsp: ENSP00000429140.1:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44597
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp3Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

8-103251097-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251097
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251097
    reference: chr 8
allele count: 6
allele frequency: 5.087418813274772e-5
allele num: 117938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.6C>G
  hgvsp: ENST00000251810.3:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.6C>G
  hgvsp: ENST00000522394.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.6C>G
  hgvsp: ENST00000523957.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.6C>G
  hgvsp: ENST00000395912.2:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.6C>G
  hgvsp: ENST00000519317.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.6C>G
  hgvsp: ENST00000519962.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly2Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

8-103251102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251102
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251102
    reference: chr 8
allele count: 1
allele frequency: 8.499498529586754e-6
allele num: 117654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429578
  ensembl transcript: ENST00000522394
  gene symbol: RRM2B
  hgvsc: ENST00000522394.1:c.1A>G
  hgvsp: ENSP00000429578.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000379248
  ensembl transcript: ENST00000395912
  gene symbol: RRM2B
  hgvsc: ENST00000395912.2:c.1A>G
  hgvsp: ENSP00000379248.2:p.Met1?
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.1A>G
  hgvsp: ENSP00000427830.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000430641
  ensembl transcript: ENST00000519317
  gene symbol: RRM2B
  hgvsc: ENST00000519317.1:c.1A>G
  hgvsp: ENSP00000430641.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000429140
  ensembl transcript: ENST00000519962
  gene symbol: RRM2B
  hgvsc: ENST00000519962.1:c.1A>G
  hgvsp: ENSP00000429140.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.1A>G
  hgvsp: ENSP00000251810.3:p.Met1?
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-103251104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251104
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251104
    reference: chr 8
allele count: 2
allele frequency: 1.701114229820532e-5
allele num: 117570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-2C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36838
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44156
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8448
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

8-103251107-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251107
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251107
    reference: chr 8
allele count: 2
allele frequency: 1.704884494075526e-5
allele num: 117310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-5G>C
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42883
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6202
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

8-103251107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251107
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251107
    reference: chr 8
allele count: 2
allele frequency: 1.704884494075526e-5
allele num: 117310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-5G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8422
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

8-103251126-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251126
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251126
    reference: chr 8
allele count: 1
allele frequency: 8.639458133185886e-6
allele num: 115748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-24C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16186
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

8-103251128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251128
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251128
    reference: chr 8
allele count: 3
allele frequency: 2.59076306608173e-5
allele num: 115796
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-26C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11190
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

8-103251135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251135
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251135
    reference: chr 8
allele count: 2
allele frequency: 1.736593498193943e-5
allele num: 115168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-33C>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11154
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-103251140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251140
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251140
    reference: chr 8
allele count: 1
allele frequency: 8.721893697559614e-6
allele num: 114654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-38G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 9247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
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genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3900
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 508
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1142
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genotype quality: GenotypeQuality
  all individuals: 228
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 213
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.218026796589525e-4
  allele num: 8210
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-103251141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251141
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251141
    reference: chr 8
allele count: 1
allele frequency: 8.723872003349968e-6
allele num: 114628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-39A>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-39A>G
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8210
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

8-103251142-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251142
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251142
    reference: chr 8
allele count: 1
allele frequency: 8.749978125054688e-6
allele num: 114286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-40C>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-40C>A
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16132
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

8-103251144-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251144
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251144
    reference: chr 8
allele count: 2
allele frequency: 1.754663016967591e-5
allele num: 113982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-42C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-42C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12818
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8162
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

8-103251149-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251149
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251149
    reference: chr 8
allele count: 2
allele frequency: 1.774245058727511e-5
allele num: 112724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-47A>T
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-47A>T
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9152
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-103251153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251153
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251153
    reference: chr 8
allele count: 1
allele frequency: 8.915993509156726e-6
allele num: 112158
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-51C>G
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5813
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61610
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-103251154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103251154
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103251154
    reference: chr 8
allele count: 1
allele frequency: 8.939746111210441e-6
allele num: 111860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000427830
  ensembl transcript: ENST00000523957
  gene symbol: RRM2B
  hgvsc: ENST00000523957.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/17296
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048392
  ensembl protein: ENSP00000251810
  ensembl transcript: ENST00000251810
  gene symbol: RRM2B
  hgvsc: ENST00000251810.3:c.-52G>A
  variant of: http://identifiers.org/hgnc/17296
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23446
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7964
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

8-103266480-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266480
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266480
    reference: chr 8
allele count: 14
allele frequency: 1.57767810858933e-4
allele num: 88738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.789A>T
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*50A>T
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*50A>T
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*50A>T
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*50A>T
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19943
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7366
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

8-103266482-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266482
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266482
    reference: chr 8
allele count: 4
allele frequency: 4.500551317536398e-5
allele num: 88878
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*48A>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*48A>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*48A>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*48A>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.787A>C
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19950
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

8-103266484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266484
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266484
    reference: chr 8
allele count: 1
allele frequency: 1.126887536623845e-5
allele num: 88740
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.785G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*46G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

8-103266486-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266486
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266486
    reference: chr 8
allele count: 1
allele frequency: 1.118893637970775e-5
allele num: 89374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*44T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*44T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*44T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*44T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.783T>C
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19911
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

8-103266495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266495
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266495
    reference: chr 8
allele count: 1
allele frequency: 1.10316829935575e-5
allele num: 90648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.774T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*35T>C
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-103266499-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266499
    reference: chr 8
allele count: 3
allele frequency: 3.255561584373305e-5
allele num: 92150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.770T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*31T>C
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20300
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14368
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13709
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-103266511-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266511
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266511
    reference: chr 8
allele count: 1
allele frequency: 9.913553810770085e-6
allele num: 100872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*19T>G
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*19T>G
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*19T>G
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.758T>G
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*19T>G
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-103266515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103266515
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 103266515
    reference: chr 8
allele count: 1
allele frequency: 9.622231202971345e-6
allele num: 103926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000427819
  ensembl transcript: ENST00000521922
  gene symbol: UBR5
  hgvsc: ENST00000521922.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000220959
  ensembl transcript: ENST00000220959
  gene symbol: UBR5
  hgvsc: ENST00000220959.4:c.*15G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000429084
  ensembl transcript: ENST00000520539
  gene symbol: UBR5
  hgvsc: ENST00000520539.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104517
  ensembl transcript: ENST00000517465
  gene symbol: UBR5
  hgvsc: ENST00000517465.1:n.754G>A
  variant of: http://identifiers.org/hgnc/16806
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104517
  ensembl protein: ENSP00000428693
  ensembl transcript: ENST00000518205
  gene symbol: UBR5
  hgvsc: ENST00000518205.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/16806
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 745
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14876
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.114330287497214e-4
allele num: 8974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

FS
type: SiteQuality
SIO_000300: 6.972e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.329e0

QD
type: SiteQuality
SIO_000300: 1.876e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.407e0

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

DP
type: SiteQuality
SIO_000300: 5.46173e5

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 1791
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 840
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12582
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 1.907e0

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.284e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.65334e5

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2710
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1783
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.947862025115244e-5
allele num: 12582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 1.907e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 5.65334e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.44e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1977
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 559
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.834355828220859e-4
allele num: 2608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.337e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.049e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 5.73202e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5018
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1981
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11868
bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
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GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 3.90625e-3
allele num: 256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 5.79413e5

QD
type: SiteQuality
SIO_000300: 3.56e0

VQSLOD
type: SiteQuality
SIO_000300: -2.702e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 1480
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
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variant carriers: 0

GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 592
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variant carriers: 1

GenotypeQuality
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.148e1

MQRankSum
type: SiteQuality
SIO_000300: -2.017e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 5.99834e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 7.97e0

GenotypeQuality
all individuals: 2564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.244388504300398e-5
allele num: 19068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 3.757e0

DP
type: SiteQuality
SIO_000300: 6.74762e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -5.054e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

GenotypeQuality
all individuals: 5538
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.347826086956522e-4
allele num: 2300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.74762e5

QD
type: SiteQuality
SIO_000300: 7.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.054e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 3.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
all individuals: 1337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34049
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 509
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variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2560
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variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 7.5e0
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GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 709
bin: 9.75e1
variant carriers: 116

GenotypeQuality
all individuals: 10101
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 374
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1330
bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 4
allele frequency: 3.826286588865506e-4
allele num: 10454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.204610951008645e-4
allele num: 1388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 109
allele frequency: 4.852640014246282e-3
allele num: 22462
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.747252747252747e-3
allele num: 364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 7.25972e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
all individuals: 288
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GenotypeQuality
all individuals: 3170
bin: 7.5e0
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GenotypeQuality
all individuals: 435
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variant carriers: 0

GenotypeQuality
all individuals: 33089
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variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.207485226526592e-5
allele num: 24368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

QD
type: SiteQuality
SIO_000300: 1.166e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 7.50777e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 17894
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
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GenotypeQuality
all individuals: 28773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
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GenotypeQuality
all individuals: 318
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GenotypeQuality
all individuals: 1363
bin: 3.75e1
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GenotypeQuality
all individuals: 72
bin: 2.5e0
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GenotypeQuality
all individuals: 564
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GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 624
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variant carriers: 11

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32262
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 3.113026819923371e-3
allele num: 4176
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11748
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.641e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 8.59829e5

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1287
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
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variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.25e1
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GenotypeQuality
all individuals: 2084
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variant carriers: 0

GenotypeQuality
all individuals: 26792
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 614
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variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.241305422778968e-5
allele num: 12134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35064
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.75e-1

FS
type: SiteQuality
SIO_000300: 4.532e0

MQRankSum
type: SiteQuality
SIO_000300: -1.738e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: -5.747e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

DP
type: SiteQuality
SIO_000300: 9.02567e5

GenotypeQuality
all individuals: 1035
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.667235676944415e-5
allele num: 37492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.389e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.379e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.029e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
all individuals: 854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.991635132443736e-5
allele num: 50210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 3.332e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

DP
type: SiteQuality
SIO_000300: 1.134217e6

QD
type: SiteQuality
SIO_000300: 1.155e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.217e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.924853711117955e-5
allele num: 51952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.338634237605239e-4
allele num: 4276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14220
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.148e0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.357e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.161419e6

GenotypeQuality
all individuals: 343
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.34698275862069e-4
allele num: 7424
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.148e0

DP
type: SiteQuality
SIO_000300: 1.161419e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.25e1
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GenotypeQuality
all individuals: 647
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variant carriers: 2

GenotypeQuality
all individuals: 901
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 972
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GenotypeQuality
all individuals: 570
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GenotypeQuality
all individuals: 842
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.641310089804543e-4
allele num: 7572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 4.196e0

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

DP
type: SiteQuality
SIO_000300: 1.176814e6

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 658
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 388
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 681
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GenotypeQuality
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GenotypeQuality
all individuals: 549
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GenotypeQuality
all individuals: 40504
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.710508656556167e-5
allele num: 14902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57148
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.229e0

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 1.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.241122e6

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 60

GenotypeQuality
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bin: 7.25e1
variant carriers: 40

GenotypeQuality
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bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 168
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variant carriers: 11

GenotypeQuality
all individuals: 577
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variant carriers: 26

GenotypeQuality
all individuals: 283
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variant carriers: 27

GenotypeQuality
all individuals: 116
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variant carriers: 14

GenotypeQuality
all individuals: 6520
bin: 2.25e1
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GenotypeQuality
all individuals: 3197
bin: 6.75e1
variant carriers: 69

GenotypeQuality
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bin: 3.75e1
variant carriers: 26

GenotypeQuality
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variant carriers: 44

GenotypeQuality
all individuals: 893
bin: 7.75e1
variant carriers: 94

GenotypeQuality
all individuals: 497
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variant carriers: 66

GenotypeQuality
all individuals: 228
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variant carriers: 86

GenotypeQuality
all individuals: 10797
bin: 9.75e1
variant carriers: 10238

African
type: Population
allele count: 366
allele frequency: 4.385334291876348e-2
allele num: 8346
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 9193
allele frequency: 1.535390987740922e-1
allele num: 59874
num of homozygotes: 668

European (Finnish)
type: Population
allele count: 802
allele frequency: 1.515495086923658e-1
allele num: 5292
num of homozygotes: 60

Latino
type: Population
allele count: 637
allele frequency: 6.284530386740332e-2
allele num: 10136
num of homozygotes: 19

East Asian
type: Population
allele count: 126
allele frequency: 1.607963246554365e-2
allele num: 7836
num of homozygotes: 0

South Asian
type: Population
allele count: 402
allele frequency: 2.669677247974499e-2
allele num: 15058
num of homozygotes: 2

Other
type: Population
allele count: 74
allele frequency: 9.390862944162437e-2
allele num: 788
num of homozygotes: 2

QD
type: SiteQuality
SIO_000300: 1.469e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.688e0

DP
type: SiteQuality
SIO_000300: 1.426137e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
all individuals: 554
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1410
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GenotypeQuality
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GenotypeQuality
all individuals: 40227
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 1399
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 728
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GenotypeQuality
all individuals: 5059
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.581545346847439e-5
allele num: 15194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645494635687488e-5
allele num: 60772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.188e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
SIO_000300: 1.354375e6

GenotypeQuality
all individuals: 1269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 507
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GenotypeQuality
all individuals: 41964
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GenotypeQuality
all individuals: 1386
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GenotypeQuality
all individuals: 504
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 541
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 9.442870632672332e-5
allele num: 10590
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 2.47e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: -8.0e-4

VQSLOD
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.378637e6

FS
type: SiteQuality
SIO_000300: 3.825e0

BaseQRankSum
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SIO_000300: 4.07e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 810
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.817883985353632e-5
allele num: 62268
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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SIO_000300: -2.5e-1

MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

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

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.415191172696946e-5
allele num: 15588
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
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SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.592863969417012e-5
allele num: 62780
num of homozygotes: 0

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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.394263e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 826
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.575051189163648e-5
allele num: 63490
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6000
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.40878e6

FS
type: SiteQuality
SIO_000300: 1.2851e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.805e1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 1.633453119895459e-4
allele num: 6122
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.890743171448216e-3
allele num: 63996
num of homozygotes: 0

Latino
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allele frequency: 9.05961224859576e-5
allele num: 11038
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African
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allele frequency: 6.389776357827476e-4
allele num: 9390
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East Asian
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South Asian
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allele frequency: 6.277463904582549e-5
allele num: 15930
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Other
type: Population
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allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 1.427891e6

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6334
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African
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East Asian
type: Population
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Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.538224888478696e-5
allele num: 65010
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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FS
type: SiteQuality
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DP
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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MQ
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
type: Population
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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European (Finnish)
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QD
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MQ
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ReadPosRankSum
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FS
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VQSLOD
type: SiteQuality
SIO_000300: -1.132e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 1.464135e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 46686
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5736
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 866
allele frequency: 8.59638673813778e-2
allele num: 10074
num of homozygotes: 41

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.53514739229025e-3
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.64876854826373e-5
allele num: 65370
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.45743373705459e-3
allele num: 11394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221747098350641e-4
allele num: 16370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 1.492427e6

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.03e-2

DP
type: SiteQuality
SIO_000300: 1.492427e6

GenotypeQuality
all individuals: 1386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5878
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.768853034023149e-5
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.942334460131238e-5
allele num: 10058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.472214e6

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.928514694201747e-5
allele num: 10072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.472451e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.151e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

MQ
type: SiteQuality
SIO_000300: 5.818e1

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
all individuals: 47411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.618e0

FS
type: SiteQuality
SIO_000300: 1.917e0

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

DP
type: SiteQuality
SIO_000300: 1.473105e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.111e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.887e0

GenotypeQuality
all individuals: 5878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.075e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

DP
type: SiteQuality
SIO_000300: 1.470359e6

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.750393838613688e-4
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.470359e6

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 9.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.075e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5830
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.468066e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 3.09e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.163e0

FS
type: SiteQuality
SIO_000300: 2.332e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 237
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 45592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.710315591144607e-4
allele num: 8492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.061e1

DP
type: SiteQuality
SIO_000300: 1.466288e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 1.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.559e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

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

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.982e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 1.782e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.155e1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.466327e6

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65090
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.635e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

DP
type: SiteQuality
SIO_000300: 1.459227e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.212e0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
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GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536334306345061e-5
allele num: 65090
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.212e0

DP
type: SiteQuality
SIO_000300: 1.459227e6

FS
type: SiteQuality
SIO_000300: 4.635e0

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65024
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.187e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.455173e6

FS
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.68e0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45436
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variant carriers: 0

GenotypeQuality
all individuals: 226
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
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: 6286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.297e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.097e0

QD
type: SiteQuality
SIO_000300: 8.08e0

DP
type: SiteQuality
SIO_000300: 1.453412e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

VQSLOD
type: SiteQuality
SIO_000300: -3.224e0

GenotypeQuality
all individuals: 422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53888769197624e-5
allele num: 64982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
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: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.453641e6

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 3.459e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 9.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 432
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.622e0

QD
type: SiteQuality
SIO_000300: 4.35e0

DP
type: SiteQuality
SIO_000300: 1.452795e6

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 5625
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variant carriers: 0

GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 9.75e1
variant carriers: 5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.718093890068412e-4
allele num: 8478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.451262e6

QD
type: SiteQuality
SIO_000300: 9.23e0

FS
type: SiteQuality
SIO_000300: 3.988e0

GenotypeQuality
all individuals: 5625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.451262e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 9.23e0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 3.988e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

GenotypeQuality
all individuals: 569
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64872
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.010509296685529e-4
allele num: 9896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.447713e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.793e1

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542876539019348e-5
allele num: 64814
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

FS
type: SiteQuality
SIO_000300: 3.026e0

QD
type: SiteQuality
SIO_000300: 1.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.444967e6

GenotypeQuality
all individuals: 44718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.083825265643448e-4
allele num: 8470
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.444933e6

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.118e1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 1330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5526
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43823
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54640769492469e-5
allele num: 64666
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 3.053e0

MQ
type: SiteQuality
SIO_000300: 5.746e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.394e0

QD
type: SiteQuality
SIO_000300: 1.134e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.435965e6

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.095591877166914e-5
allele num: 64608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

FS
type: SiteQuality
SIO_000300: 3.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 5.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.436104e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
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: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.101063664837039e-5
allele num: 64494
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.426789e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.101063664837039e-5
allele num: 64494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

DP
type: SiteQuality
SIO_000300: 1.426789e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

East Asian
type: Population
allele count: 1
allele frequency: 1.202790473899447e-4
allele num: 8314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e0

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

DP
type: SiteQuality
SIO_000300: 1.361239e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 3.611e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.234872808100766e-4
allele num: 16196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572425938738285e-5
allele num: 63596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.359964e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.12e-1

FS
type: SiteQuality
SIO_000300: 6.417e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.178e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210946960523129e-4
allele num: 8258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63254
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.053518752633797e-4
allele num: 9492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.319479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63000
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

FS
type: SiteQuality
SIO_000300: 4.016e0

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.284204e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587755231653488e-5
allele num: 62982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.283626e6

QD
type: SiteQuality
SIO_000300: 4.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.76e0

MQRankSum
type: SiteQuality
SIO_000300: -1.542e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.028530155290719e-5
allele num: 11076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62764
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

DP
type: SiteQuality
SIO_000300: 1.269413e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.195398625978591e-5
allele num: 62590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.262685e6

QD
type: SiteQuality
SIO_000300: 1.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.228618474154909e-5
allele num: 61946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 1.255471e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.098659635245001e-4
allele num: 9102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.255538e6

MQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.868e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 7.09e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61426
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.196247930844215e-5
allele num: 10874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 1.975e0

DP
type: SiteQuality
SIO_000300: 1.259376e6

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3086
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.55656397801355e-4
allele num: 46938
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.238850346878097e-4
allele num: 8072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 1.278118609406953e-4
allele num: 7824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

FS
type: SiteQuality
SIO_000300: 5.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 9.92765e5

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 6778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2812
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.107252298263534e-4
allele num: 7832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.564e1

DP
type: SiteQuality
SIO_000300: 9.97106e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

GenotypeQuality
all individuals: 7321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1488
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.130923968632799e-5
allele num: 46928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 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: 8080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.216e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.008e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.002973e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.039e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.792e-1

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

GenotypeQuality
all individuals: 7272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.270971021860702e-4
allele num: 7868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.98e0

DP
type: SiteQuality
SIO_000300: 1.011393e6

GenotypeQuality
all individuals: 388
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1768
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084983945623619e-5
allele num: 47962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 9.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.077708e6

GenotypeQuality
all individuals: 1962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.437241043139166e-4
allele num: 8206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.048508685676827e-5
allele num: 48816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.623e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

QD
type: SiteQuality
SIO_000300: 2.807e1

DP
type: SiteQuality
SIO_000300: 1.121708e6

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10226
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.849796522382538e-5
allele num: 54060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.204e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.277527e6

QD
type: SiteQuality
SIO_000300: 1.212e1