2-111423853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423853
    reference: chr 2
allele count: 1
allele frequency: 9.01144453455889e-6
allele num: 110970
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.944A>G
  hgvsp: ENSP00000302530.6:p.Gln315Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.184A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.884A>G
  hgvsp: ENSP00000441013.1:p.Gln295Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1012A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.977A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.944A>G
  hgvsp: ENSP00000386701.1:p.Gln315Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.400A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln315Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-111423855-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423855
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423855
    reference: chr 2
allele count: 63
allele frequency: 5.673222390317701e-4
allele num: 111048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.882C>G
  hgvsp: ENST00000535254.1:c.882C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.182C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.942C>G
  hgvsp: ENST00000409311.1:c.942C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.975C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1010C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.942C>G
  hgvsp: ENST00000302759.6:c.942C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.398C>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25679
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21180
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser314Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-111423861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423861
    reference: chr 2
allele count: 4
allele frequency: 3.587057895114427e-5
allele num: 111512
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.936C>T
  hgvsp: ENST00000302759.6:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.876C>T
  hgvsp: ENST00000535254.1:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.176C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.936C>T
  hgvsp: ENST00000409311.1:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.969C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1004C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.392C>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro312Pro
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-111423861-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423861
    reference: chr 2
allele count: 1
allele frequency: 8.967644737786067e-6
allele num: 111512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.969C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.176C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.392C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.936C>G
  hgvsp: ENST00000409311.1:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.936C>G
  hgvsp: ENST00000302759.6:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.876C>G
  hgvsp: ENST00000535254.1:c.876C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1004C>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro312Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

2-111423861-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423861
    reference: chr 2
allele count: 1
allele frequency: 8.967644737786067e-6
allele num: 111512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1004C>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.876C>A
  hgvsp: ENST00000535254.1:c.876C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.176C>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.936C>A
  hgvsp: ENST00000302759.6:c.936C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.969C>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.392C>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.936C>A
  hgvsp: ENST00000409311.1:c.936C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro312Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

2-111423862-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423862
    reference: chr 2
allele count: 1
allele frequency: 8.961537082840449e-6
allele num: 111588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.391C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.175C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.968C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.935C>G
  hgvsp: ENSP00000386701.1:p.Pro312Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.935C>G
  hgvsp: ENSP00000302530.6:p.Pro312Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.875C>G
  hgvsp: ENSP00000441013.1:p.Pro292Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1003C>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro312Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-111423863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423863
    reference: chr 2
allele count: 1
allele frequency: 8.960573476702509e-6
allele num: 111600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.934C>T
  hgvsp: ENSP00000302530.6:p.Pro312Ser
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.174C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.934C>T
  hgvsp: ENSP00000386701.1:p.Pro312Ser
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.874C>T
  hgvsp: ENSP00000441013.1:p.Pro292Ser
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1002C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.967C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.390C>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro312Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-111423864-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423864
    reference: chr 2
allele count: 1
allele frequency: 8.954796188838742e-6
allele num: 111672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.966G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.933G>T
  hgvsp: ENST00000302759.6:c.933G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1001G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.173G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.389G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.933G>T
  hgvsp: ENST00000409311.1:c.933G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.873G>T
  hgvsp: ENST00000535254.1:c.873G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu311Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-111423865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423865
    reference: chr 2
allele count: 1
allele frequency: 8.9394264463992e-6
allele num: 111864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.1000T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.872T>C
  hgvsp: ENSP00000441013.1:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.932T>C
  hgvsp: ENSP00000302530.6:p.Leu311Pro
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.388T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.172T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.965T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.932T>C
  hgvsp: ENSP00000386701.1:p.Leu311Pro
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu311Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-111423871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423871
    reference: chr 2
allele count: 1
allele frequency: 8.914403893811621e-6
allele num: 112178
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.926A>G
  hgvsp: ENSP00000302530.6:p.Glu309Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.994A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.926A>G
  hgvsp: ENSP00000386701.1:p.Glu309Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.382A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.959A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.866A>G
  hgvsp: ENSP00000441013.1:p.Glu289Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.166A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu309Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-111423883-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423883
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423883
    reference: chr 2
allele count: 1
allele frequency: 8.843453191602257e-6
allele num: 113078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.854A>G
  hgvsp: ENSP00000441013.1:p.Glu285Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.914A>G
  hgvsp: ENSP00000386701.1:p.Glu305Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.982A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.914A>G
  hgvsp: ENSP00000302530.6:p.Glu305Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.370A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.947A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.154A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu305Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

2-111423885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423885
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423885
    reference: chr 2
allele count: 1
allele frequency: 8.838450796344417e-6
allele num: 113142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.852G>A
  hgvsp: ENST00000535254.1:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.152G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.368G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.912G>A
  hgvsp: ENST00000302759.6:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.912G>A
  hgvsp: ENST00000409311.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.980G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.945G>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val304Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-111423891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423891
    reference: chr 2
allele count: 2
allele frequency: 1.768033946251768e-5
allele num: 113120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.362G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.906G>A
  hgvsp: ENST00000409311.1:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.846G>A
  hgvsp: ENST00000535254.1:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.939G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.906G>A
  hgvsp: ENST00000302759.6:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.974G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.146G>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln302Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

2-111423895-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423895
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423895
    reference: chr 2
allele count: 1
allele frequency: 8.857552835302662e-6
allele num: 112898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.142A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.842A>C
  hgvsp: ENSP00000441013.1:p.His281Pro
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.902A>C
  hgvsp: ENSP00000386701.1:p.His301Pro
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.902A>C
  hgvsp: ENSP00000302530.6:p.His301Pro
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.358A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.970A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.935A>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His301Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

2-111423897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423897
    reference: chr 2
allele count: 3
allele frequency: 2.660848278431164e-5
allele num: 112746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.356G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.900G>A
  hgvsp: ENST00000409311.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.968G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.933G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.840G>A
  hgvsp: ENST00000535254.1:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.140G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.900G>A
  hgvsp: ENST00000302759.6:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21569
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu300Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-111423899-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423899
    reference: chr 2
allele count: 3
allele frequency: 2.674368848951647e-5
allele num: 112176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.898T>A
  hgvsp: ENSP00000386701.1:p.Leu300Met
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.966T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.931T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.838T>A
  hgvsp: ENSP00000441013.1:p.Leu280Met
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.898T>A
  hgvsp: ENSP00000302530.6:p.Leu300Met
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.138T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.354T>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu300Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-111423917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423917
    reference: chr 2
allele count: 9
allele frequency: 8.529350442578517e-5
allele num: 105518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.913G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.120G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.880G>A
  hgvsp: ENSP00000386701.1:p.Asp294Asn
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.820G>A
  hgvsp: ENSP00000441013.1:p.Asp274Asn
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.336G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.880G>A
  hgvsp: ENSP00000302530.6:p.Asp294Asn
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.948G>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp294Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-111423930-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423930
    reference: chr 2
allele count: 2
allele frequency: 2.082465639316951e-5
allele num: 96040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.323A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.107A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.867A>G
  hgvsp: ENST00000302759.6:c.867A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.867A>G
  hgvsp: ENST00000409311.1:c.867A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.807A>G
  hgvsp: ENST00000535254.1:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.935A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.900A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu289Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

2-111423933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423933
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423933
    reference: chr 2
allele count: 1
allele frequency: 1.065620937320176e-5
allele num: 93842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.864A>G
  hgvsp: ENST00000409311.1:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.864A>G
  hgvsp: ENST00000302759.6:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.897A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.804A>G
  hgvsp: ENST00000535254.1:c.804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.932A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.104A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.320A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23961
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu288Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-111423950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423950
    reference: chr 2
allele count: 1
allele frequency: 1.204819277108434e-5
allele num: 83000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.915G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.787G>A
  hgvsp: ENSP00000441013.1:p.Ala263Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.303G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.880G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.847G>A
  hgvsp: ENSP00000302530.6:p.Ala283Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.87G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.847G>A
  hgvsp: ENSP00000386701.1:p.Ala283Thr
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala283Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-111423961-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423961
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423961
    reference: chr 2
allele count: 1
allele frequency: 1.316343723673125e-5
allele num: 75968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.836A>C
  hgvsp: ENSP00000386701.1:p.Lys279Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.292A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.776A>C
  hgvsp: ENSP00000441013.1:p.Lys259Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.869A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.76A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.904A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.836A>C
  hgvsp: ENSP00000302530.6:p.Lys279Thr
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys279Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-111423970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423970
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423970
    reference: chr 2
allele count: 1
allele frequency: 1.406588460348271e-5
allele num: 71094
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.827T>C
  hgvsp: ENSP00000302530.6:p.Met276Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.895T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.767T>C
  hgvsp: ENSP00000441013.1:p.Met256Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.67T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.283T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.827T>C
  hgvsp: ENSP00000386701.1:p.Met276Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.860T>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16401
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22709
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met276Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-111423973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423973
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423973
    reference: chr 2
allele count: 3
allele frequency: 4.310716441072506e-5
allele num: 69594
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.824A>G
  hgvsp: ENSP00000302530.6:p.Tyr275Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.824A>G
  hgvsp: ENSP00000386701.1:p.Tyr275Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.857A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.280A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.764A>G
  hgvsp: ENSP00000441013.1:p.Tyr255Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.64A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.892A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr275Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-111423984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423984
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423984
    reference: chr 2
allele count: 2
allele frequency: 3.171884416531862e-5
allele num: 63054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.269A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.53A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.881A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.813A>C
  hgvsp: ENSP00000386701.1:p.Glu271Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.753A>C
  hgvsp: ENSP00000441013.1:p.Glu251Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.846A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.813A>C
  hgvsp: ENSP00000302530.6:p.Glu271Asp
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17372
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu271Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-111423987-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423987
    reference: chr 2
allele count: 2
allele frequency: 3.207595586348473e-5
allele num: 62352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.810T>A
  hgvsp: ENSP00000386701.1:p.Asn270Lys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.810T>A
  hgvsp: ENSP00000302530.6:p.Asn270Lys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.50T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.878T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.750T>A
  hgvsp: ENSP00000441013.1:p.Asn250Lys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.266T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.843T>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn270Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-111423989-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423989
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423989
    reference: chr 2
allele count: 1
allele frequency: 1.624009354293881e-5
allele num: 61576
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.808A>G
  hgvsp: ENSP00000302530.6:p.Asn270Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.748A>G
  hgvsp: ENSP00000441013.1:p.Asn250Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.876A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.48A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.808A>G
  hgvsp: ENSP00000386701.1:p.Asn270Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.264A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.841A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17289
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5063
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn270Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-111423995-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111423995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111423995
    reference: chr 2
allele count: 1
allele frequency: 1.717032967032967e-5
allele num: 58240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.46-4A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.262-4A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.746-4A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.839-4A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.806-4A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.874-4A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.806-4A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 9.75e1
  variant carriers: 1
hgvs: c.806-4A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-111424014-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111424014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111424014
    reference: chr 2
allele count: 1
allele frequency: 1.986570781516946e-5
allele num: 50338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.46-23A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.839-23A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.262-23A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.746-23A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.806-23A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.874-23A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.806-23A>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

2-111424016-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111424016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111424016
    reference: chr 2
allele count: 1
allele frequency: 2.02552157180474e-5
allele num: 49370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.839-25C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.874-25C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.262-25C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.746-25C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.806-25C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.806-25C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.46-25C>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-111424019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111424019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111424019
    reference: chr 2
allele count: 1
allele frequency: 2.068765774339029e-5
allele num: 48338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.806-28A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.839-28A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.46-28A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.874-28A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.262-28A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.806-28A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.746-28A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

2-111424033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111424033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111424033
    reference: chr 2
allele count: 586
allele frequency: 1.369991116098565e-2
allele num: 42774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.839-42G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.806-42G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.874-42G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.746-42G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.806-42G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.46-42G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.262-42G>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25563
  bin: 7.5e0
  variant carriers: 454
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12683
  bin: 1.25e1
  variant carriers: 315
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 19314
  bin: 2.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 13656
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5593
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 4
num of homozygotes: 4
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-111424033-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111424033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111424033
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 42774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.46-42G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.839-42G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.262-42G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.874-42G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.806-42G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.806-42G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.746-42G>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 25563
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-111424036-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111424036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111424036
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 40146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.806-45C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.262-45C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.874-45C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.839-45C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.806-45C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.746-45C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.46-45C>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26591
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-111425048-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425048
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425047
    reference: chr 2
allele count: 2
allele frequency: 1.750700280112045e-5
allele num: 114240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+49delT
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+49delT
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+49delT
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+49delT
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+49delT
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+49delT
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+49delT
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: GA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-111425049-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425050
    reference: chr 2
allele count: 1
allele frequency: 8.771160424524164e-6
allele num: 114010
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+48dupA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+48dupA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+48dupA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+48dupA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+48dupA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+48dupA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+48dupA
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-111425050-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425050
    reference: chr 2
allele count: 2
allele frequency: 1.752510471250066e-5
allele num: 114122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+48A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+48A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+48A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+48A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+48A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+48A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+48A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26991
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-111425054-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425054
    reference: chr 2
allele count: 4
allele frequency: 3.497971176717504e-5
allele num: 114352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+44A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+44A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+44A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+44A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+44A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+44A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+44A>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

2-111425055-TTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425053
    reference: chr 2
allele count: 1
allele frequency: 8.744774996939329e-6
allele num: 114354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+41_805+42delTA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+41_805+42delTA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+41_873+42delTA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+41_745+42delTA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+41_45+42delTA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+41_261+42delTA
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+41_838+42delTA
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: TTA
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-111425062-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425062
    reference: chr 2
allele count: 131
allele frequency: 1.14332594389848e-3
allele num: 114578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+36T>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+36T>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+36T>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+36T>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+36T>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+36T>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+36T>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-111425064-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425064
    reference: chr 2
allele count: 2
allele frequency: 1.743223219733287e-5
allele num: 114730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+34T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+34T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+34T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+34T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+34T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+34T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+34T>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27159
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-111425321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425321
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425321
    reference: chr 2
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.77-39G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.621-39G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.654-39G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.621-39G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.561-39G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.689-39G>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-111425068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425068
    reference: chr 2
allele count: 46
allele frequency: 4.003063213589529e-4
allele num: 114912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+30C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+30C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+30C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+30C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+30C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+30C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+30C>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27191
  bin: 9.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-111425081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425081
    reference: chr 2
allele count: 4
allele frequency: 3.448692083527322e-5
allele num: 115986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+17A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+17A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+17A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+17A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+17A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+17A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+17A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-111425082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425082
    reference: chr 2
allele count: 5
allele frequency: 4.30781955405452e-5
allele num: 116068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+16T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+16T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+16T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+16T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+16T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+16T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+16T>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-111425088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425088
    reference: chr 2
allele count: 3
allele frequency: 2.562875888463641e-5
allele num: 117056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.45+10A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.805+10A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.873+10A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.805+10A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.261+10A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.745+10A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.838+10A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-111425099-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425099
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425099
    reference: chr 2
allele count: 1
allele frequency: 8.4088730428348e-6
allele num: 118922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.260G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.744G>C
  hgvsp: ENSP00000441013.1:p.Trp248Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.804G>C
  hgvsp: ENSP00000386701.1:p.Trp268Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.837G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.804G>C
  hgvsp: ENSP00000302530.6:p.Trp268Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.872G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.44G>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp268Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

2-111425104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425104
    reference: chr 2
allele count: 2
allele frequency: 1.672772285508774e-5
allele num: 119562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.799C>G
  hgvsp: ENSP00000386701.1:p.Gln267Glu
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.739C>G
  hgvsp: ENSP00000441013.1:p.Gln247Glu
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.867C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.39C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.832C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.255C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.799C>G
  hgvsp: ENSP00000302530.6:p.Gln267Glu
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27229
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln267Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-111425108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425108
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425108
    reference: chr 2
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.735T>C
  hgvsp: ENST00000535254.1:c.735T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.795T>C
  hgvsp: ENST00000302759.6:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.35T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.795T>C
  hgvsp: ENST00000409311.1:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.863T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.828T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.251T>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His265His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-111425118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425118
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425118
    reference: chr 2
allele count: 2
allele frequency: 1.660412446451699e-5
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.785G>A
  hgvsp: ENSP00000386701.1:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.785G>A
  hgvsp: ENSP00000302530.6:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.818G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.25G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.241G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.725G>A
  hgvsp: ENSP00000441013.1:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.853G>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg262Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-111425119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425119
    reference: chr 2
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.24C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.724C>T
  hgvsp: ENSP00000441013.1:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.784C>T
  hgvsp: ENSP00000302530.6:p.Arg262Trp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.852C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.240C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.784C>T
  hgvsp: ENSP00000386701.1:p.Arg262Trp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.817C>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg262Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-111425123-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425123
    reference: chr 2
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.813T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.720T>A
  hgvsp: ENSP00000441013.1:p.Asn240Lys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.236T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000477481
  gene symbol: BUB1
  hgvsc: ENST00000477481.1:n.20T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.780T>A
  hgvsp: ENSP00000386701.1:p.Asn260Lys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.848T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.780T>A
  hgvsp: ENSP00000302530.6:p.Asn260Lys
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn260Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-111425143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425143
    reference: chr 2
allele count: 10
allele frequency: 8.259957378619926e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.793T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.760T>C
  hgvsp: ENST00000302759.6:c.760T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.700T>C
  hgvsp: ENST00000535254.1:c.700T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.828T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.760T>C
  hgvsp: ENST00000409311.1:c.760T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.216T>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu254Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

2-111425166-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425166
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425166
    reference: chr 2
allele count: 8
allele frequency: 6.602839220864973e-5
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.677A>C
  hgvsp: ENSP00000441013.1:p.Glu226Ala
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.193A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.770A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.737A>C
  hgvsp: ENSP00000386701.1:p.Glu246Ala
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.805A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.737A>C
  hgvsp: ENSP00000302530.6:p.Glu246Ala
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu246Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-111425167-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425167
    reference: chr 2
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.736G>C
  hgvsp: ENSP00000386701.1:p.Glu246Gln
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.769G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.736G>C
  hgvsp: ENSP00000302530.6:p.Glu246Gln
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.676G>C
  hgvsp: ENSP00000441013.1:p.Glu226Gln
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.192G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.804G>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu246Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-111425172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425172
    reference: chr 2
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.731G>A
  hgvsp: ENSP00000386701.1:p.Arg244His
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.187G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.799G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.731G>A
  hgvsp: ENSP00000302530.6:p.Arg244His
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.764G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.671G>A
  hgvsp: ENSP00000441013.1:p.Arg224His
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg244His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-111425173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425173
    reference: chr 2
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.186C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.670C>T
  hgvsp: ENSP00000441013.1:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.798C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.730C>T
  hgvsp: ENSP00000386701.1:p.Arg244Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.730C>T
  hgvsp: ENSP00000302530.6:p.Arg244Cys
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.763C>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg244Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-111425173-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425173
    reference: chr 2
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.186C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.730C>G
  hgvsp: ENSP00000302530.6:p.Arg244Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.670C>G
  hgvsp: ENSP00000441013.1:p.Arg224Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.798C>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.730C>G
  hgvsp: ENSP00000386701.1:p.Arg244Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.763C>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12452
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg244Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-111425180-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425180
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425180
    reference: chr 2
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.791G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.663G>T
  hgvsp: ENSP00000441013.1:p.Lys221Asn
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.756G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.723G>T
  hgvsp: ENSP00000386701.1:p.Lys241Asn
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.723G>T
  hgvsp: ENSP00000302530.6:p.Lys241Asn
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.179G>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys241Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-111425183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425183
    reference: chr 2
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.720G>A
  hgvsp: ENST00000409311.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.788G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.660G>A
  hgvsp: ENST00000535254.1:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.720G>A
  hgvsp: ENST00000302759.6:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.176G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.753G>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu240Glu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-111425200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425200
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425200
    reference: chr 2
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.703G>A
  hgvsp: ENSP00000302530.6:p.Val235Ile
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.736G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.771G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.159G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.703G>A
  hgvsp: ENSP00000386701.1:p.Val235Ile
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.643G>A
  hgvsp: ENSP00000441013.1:p.Val215Ile
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12456
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val235Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-111425202-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425201
    reference: chr 2
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.700delG
  hgvsp: ENSP00000302530.6:p.Val234LeufsTer21
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.768delG
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.733delG
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.700delG
  hgvsp: ENSP00000386701.1:p.Val234LeufsTer21
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.156delG
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.640delG
  hgvsp: ENSP00000441013.1:p.Val214LeufsTer21
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val234LeufsTer21
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: AC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS

2-111425204-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425204
    reference: chr 2
allele count: 7
allele frequency: 5.774719926083585e-5
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.699G>C
  hgvsp: ENSP00000386701.1:p.Gln233His
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.639G>C
  hgvsp: ENSP00000441013.1:p.Gln213His
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.155G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.699G>C
  hgvsp: ENSP00000302530.6:p.Gln233His
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.767G>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.732G>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27239
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Gln233His
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: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/2-111425207-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425207
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.696G>T
  hgvsp: ENSP00000386701.1:p.Glu232Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.152G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.729G>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.636G>T
  hgvsp: ENSP00000441013.1:p.Glu212Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.696G>T
  hgvsp: ENSP00000302530.6:p.Glu232Asp
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.764G>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu232Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-111425214-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425214
    reference: chr 2
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.757A>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.629A>T
  hgvsp: ENSP00000441013.1:p.Asp210Val
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.145A>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.689A>T
  hgvsp: ENSP00000386701.1:p.Asp230Val
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.722A>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.689A>T
  hgvsp: ENSP00000302530.6:p.Asp230Val
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp230Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-111425214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425214
    reference: chr 2
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.689A>G
  hgvsp: ENSP00000302530.6:p.Asp230Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.722A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.145A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.757A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.629A>G
  hgvsp: ENSP00000441013.1:p.Asp210Gly
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.689A>G
  hgvsp: ENSP00000386701.1:p.Asp230Gly
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27240
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp230Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-111425217-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425217
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425217
    reference: chr 2
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.686T>C
  hgvsp: ENSP00000386701.1:p.Val229Ala
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.686T>C
  hgvsp: ENSP00000302530.6:p.Val229Ala
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.754T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.142T>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.626T>C
  hgvsp: ENSP00000441013.1:p.Val209Ala
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.719T>C
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val229Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

2-111425220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425220
    reference: chr 2
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.716A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.751A>G
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.683A>G
  hgvsp: ENSP00000302530.6:p.Lys228Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.683A>G
  hgvsp: ENSP00000386701.1:p.Lys228Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.623A>G
  hgvsp: ENSP00000441013.1:p.Lys208Arg
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.139A>G
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys228Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-111425224-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425224
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425224
    reference: chr 2
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.619T>A
  hgvsp: ENSP00000441013.1:p.Ser207Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.679T>A
  hgvsp: ENSP00000386701.1:p.Ser227Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.135T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.712T>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.679T>A
  hgvsp: ENSP00000302530.6:p.Ser227Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.747T>A
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser227Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-111425226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425226
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425226
    reference: chr 2
allele count: 233
allele frequency: 1.923807322027181e-3
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.133C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.677C>T
  hgvsp: ENSP00000386701.1:p.Ala226Val
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.617C>T
  hgvsp: ENSP00000441013.1:p.Ala206Val
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.745C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.677C>T
  hgvsp: ENSP00000302530.6:p.Ala226Val
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.710C>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 12364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27353
  bin: 9.75e1
  variant carriers: 232
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala226Val
num of homozygotes: 2
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

2-111425227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425227
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425227
    reference: chr 2
allele count: 3
allele frequency: 2.477332408462567e-5
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.676G>A
  hgvsp: ENSP00000386701.1:p.Ala226Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.709G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.132G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.744G>A
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.616G>A
  hgvsp: ENSP00000441013.1:p.Ala206Thr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.676G>A
  hgvsp: ENSP00000302530.6:p.Ala226Thr
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27316
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala226Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-111425238-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425238
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425238
    reference: chr 2
allele count: 2
allele frequency: 1.652810604432838e-5
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.698A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.605A>C
  hgvsp: ENSP00000441013.1:p.His202Pro
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.733A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.121A>C
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.665A>C
  hgvsp: ENSP00000386701.1:p.His222Pro
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.665A>C
  hgvsp: ENSP00000302530.6:p.His222Pro
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His222Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-111425239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111425239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111425239
    reference: chr 2
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000465029
  gene symbol: BUB1
  hgvsc: ENST00000465029.1:n.732C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000386701
  ensembl transcript: ENST00000409311
  gene symbol: BUB1
  hgvsc: ENST00000409311.1:c.664C>T
  hgvsp: ENSP00000386701.1:p.His222Tyr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000441013
  ensembl transcript: ENST00000535254
  gene symbol: BUB1
  hgvsc: ENST00000535254.1:c.604C>T
  hgvsp: ENSP00000441013.1:p.His202Tyr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169679
  ensembl protein: ENSP00000302530
  ensembl transcript: ENST00000302759
  gene symbol: BUB1
  hgvsc: ENST00000302759.6:c.664C>T
  hgvsp: ENSP00000302530.6:p.His222Tyr
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000466333
  gene symbol: BUB1
  hgvsc: ENST00000466333.1:n.697C>T
  variant of: http://identifiers.org/hgnc/1148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169679
  ensembl transcript: ENST00000468927
  gene symbol: BUB1
  hgvsc: ENST00000468927.1:n.120C>T
  variant of: http://identifiers.org/hgnc/1148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His222Tyr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63946
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.572792e6

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 5.671e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.245e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.241e0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 9.75e1
variant carriers: 64

GenotypeQuality
all individuals: 941
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.638058389025677e-4
allele num: 11372
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.20074890784273e-4
allele num: 9614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 8.129827084831619e-4
allele num: 63962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.056234718826406e-4
allele num: 6544
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.2531328320802e-3
allele num: 798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

FS
type: SiteQuality
SIO_000300: 1.801e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.062e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 1.575318e6

GenotypeQuality
all individuals: 600
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5081
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.241807627488921e-5
allele num: 64084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 2.524e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 1.578927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.304e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

GenotypeQuality
all individuals: 43417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4321
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2660
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56045190687223e-5
allele num: 64084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.578927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 2.524e0

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeQuality
all individuals: 4321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43417
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56045190687223e-5
allele num: 64084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 2.524e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

DP
type: SiteQuality
SIO_000300: 1.578927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5600624024961e-5
allele num: 64100
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.488e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.579037e6

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560159760359461e-5
allele num: 64096
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

FS
type: SiteQuality
SIO_000300: 7.731e0

DP
type: SiteQuality
SIO_000300: 1.58028e6

VQSLOD
type: SiteQuality
SIO_000300: -2.761e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 8.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559429872438636e-5
allele num: 64126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.580772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.325e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.236e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.003e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.343e-1

GenotypeQuality
all individuals: 1032
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.581206e6

QD
type: SiteQuality
SIO_000300: 9.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

FS
type: SiteQuality
SIO_000300: 6.818e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10538
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55802069051477e-5
allele num: 64184
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.583012e6

FS
type: SiteQuality
SIO_000300: 2.561e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 43897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.809020436927414e-5
allele num: 11352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.769e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.589685e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

QD
type: SiteQuality
SIO_000300: 1.182e1

VQSLOD
type: SiteQuality
SIO_000300: -1.677e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 43914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64282
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.862105636299185e-5
allele num: 11284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.062e0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.590311e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.011e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.742e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.572e0

GenotypeQuality
all individuals: 954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119346185039615e-5
allele num: 64116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.338e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.586867e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 2.088e1

FS
type: SiteQuality
SIO_000300: 2.164e0

VQSLOD
type: SiteQuality
SIO_000300: -1.773e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

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

GenotypeQuality
all individuals: 43140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.992805755395684e-5
allele num: 11120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12000
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.52e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.58163e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.369e0

VQSLOD
type: SiteQuality
SIO_000300: -1.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

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

GenotypeQuality
all individuals: 330
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 43034
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.492522432701894e-4
allele num: 12036
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 1.58077e6

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4788
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variant carriers: 0

GenotypeQuality
all individuals: 363
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variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.736044455670624e-5
allele num: 63344
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

FS
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.570822e6

GenotypeQuality
all individuals: 35563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2649
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11246
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variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.128951329653788e-3
allele num: 7972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.472652e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.484e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25953
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53246
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 2.209944751381215e-4
allele num: 9050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.169e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

DP
type: SiteQuality
SIO_000300: 1.324685e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
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: 51936
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.142074006395614e-4
allele num: 8756
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -4.34e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.292101e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.09e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 916
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.36986301369863e-4
allele num: 7300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.142643e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -7.092000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.576e0

GenotypeQuality
all individuals: 2546
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
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GenotypeQuality
all individuals: 12181
bin: 6.25e1
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GenotypeQuality
all individuals: 1609
bin: 7.5e0
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GenotypeQuality
all individuals: 379
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GenotypeQuality
all individuals: 30538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
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GenotypeQuality
all individuals: 746
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 383
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.656177542232527e-4
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41716
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.055048e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.456e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 39014
num of homozygotes: 0

South Asian
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allele frequency: 1.350256548744261e-4
allele num: 7406
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

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

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

ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.602e0

BaseQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
SIO_000300: 4.9e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4660
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 7.85751702462022e-5
allele num: 38180
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5624
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.866e1

DP
type: SiteQuality
SIO_000300: 9.86551e5

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

FS
type: SiteQuality
SIO_000300: 3.437e0

VQSLOD
type: SiteQuality
SIO_000300: -1.646e0

ClippingRankSum
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SIO_000300: 1.31e0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 5.77667379123101e-5
allele num: 34622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 2.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

DP
type: SiteQuality
SIO_000300: 9.21746e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34208
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5014
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6018
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African
type: Population
allele count: 2
allele frequency: 2.788622420524261e-4
allele num: 7172
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

DP
type: SiteQuality
SIO_000300: 9.14656e5

FS
type: SiteQuality
SIO_000300: 1.6307e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.374e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.959455460195324e-5
allele num: 33790
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.123e0

DP
type: SiteQuality
SIO_000300: 9.05005e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
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MQRankSum
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SIO_000300: 1.55e0

ReadPosRankSum
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SIO_000300: -1.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

QD
type: SiteQuality
SIO_000300: 1.505e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

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: 3.120319520718922e-5
allele num: 32048
num of homozygotes: 0

African
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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
allele num: 5282
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

InbreedingCoeff
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FS
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 2.465483234714004e-4
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Other
type: Population
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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MQ
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DP
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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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 26766
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European (Finnish)
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East Asian
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African
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Latino
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Other
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QD
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 37

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 36

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 8.534850640113799e-3
allele num: 2812
num of homozygotes: 1

African
type: Population
allele count: 21
allele frequency: 3.623188405797101e-3
allele num: 5796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 510
allele frequency: 2.148634984833165e-2
allele num: 23736
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 22
allele frequency: 6.74432863274065e-3
allele num: 3262
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.624431448992852e-3
allele num: 3078
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 1.136363636363636e-2
allele num: 352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 7.38881e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 9.89e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 7.38881e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

FS
type: SiteQuality
SIO_000300: 9.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeQuality
all individuals: 7424
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

DP
type: SiteQuality
SIO_000300: 7.27007e5

GenotypeQuality
all individuals: 1047
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27015
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.086324496157526e-5
allele num: 64802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12236
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 2.142098e6

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 6.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

FS
type: SiteQuality
SIO_000300: 6.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

GenotypeQuality
all individuals: 1093
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 26982
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1342
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545021939311538e-5
allele num: 64724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 2.143797e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

FS
type: SiteQuality
SIO_000300: 9.016999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

QD
type: SiteQuality
SIO_000300: 6.2e0

GenotypeQuality
all individuals: 3627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
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variant carriers: 0

GenotypeQuality
all individuals: 1175
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variant carriers: 0

GenotypeQuality
all individuals: 3663
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variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.086991418163858e-5
allele num: 64788
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 2.145035e6

GenotypeQuality
all individuals: 498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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: 3751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 4
allele frequency: 4.084133142740453e-4
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12254
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.616e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

DP
type: SiteQuality
SIO_000300: 2.150848e6

FS
type: SiteQuality
SIO_000300: 5.966e0

GenotypeQuality
all individuals: 312
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3671
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12264
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.901e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 2.152626e6

FS
type: SiteQuality
SIO_000300: 1.1167e1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3797
bin: 8.25e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27201
bin: 9.75e1
variant carriers: 127

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743679163034002e-4
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.193317422434368e-3
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 128
allele frequency: 1.033424834490554e-2
allele num: 12386
num of homozygotes: 1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 2.168608e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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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: 3826
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.601281024819856e-4
allele num: 12490
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.173053e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.282e0

QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.99e0

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -2.237e0

InbreedingCoeff
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SIO_000300: -3.0e-4

VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 6.421e0

MQ
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.774e0

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

African
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allele frequency: 1.016880211511084e-4
allele num: 9834
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.459550907413103e-4
allele num: 65020
num of homozygotes: 0

Latino
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allele frequency: 2.613240418118467e-4
allele num: 11480
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
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MQ
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SIO_000300: 5.97e1

QD
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MQRankSum
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SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.482702577199907e-4
allele num: 8614
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 13184
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.530971554548516e-5
allele num: 65318
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

FS
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 1.229e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 2.198652e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 13224
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.650875260129759e-5
allele num: 65352
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
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Other
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allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
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SIO_000300: 2.200162e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.456e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
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allele frequency: 1.444251877527441e-4
allele num: 13848
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East Asian
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allele frequency: 1.158748551564311e-4
allele num: 8630
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 864
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VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 2.792e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 2.212427e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10086
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
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allele num: 8640
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.067e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 2.234445e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.291989664082687e-4
allele num: 15480
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 890
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66332
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African
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allele frequency: 9.854158454867954e-5
allele num: 10148
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MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
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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variant carriers: 0

East Asian
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allele num: 8648
num of homozygotes: 0

Latino
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
type: Population
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MQ
type: SiteQuality
SIO_000300: 5.963e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.838646202282565e-5
allele num: 10164
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66500
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East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.4e-1

FS
type: SiteQuality
SIO_000300: 1.0788e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.25508e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.812e0

GenotypeQuality
all individuals: 3944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27229
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2480
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

DP
type: SiteQuality
SIO_000300: 2.257494e6

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 9.15e0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27236
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3946
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3641
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350540216086435e-4
allele num: 66640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

DP
type: SiteQuality
SIO_000300: 2.261897e6

QD
type: SiteQuality
SIO_000300: 1.44e1

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12430
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27234
bin: 9.75e1
variant carriers: 8

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199796034674105e-4
allele num: 66678
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.263221e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.742e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

GenotypeQuality
all individuals: 4367
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27235
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3642
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.263021e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -3.828e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4371
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
SIO_000300: 2.263236e6

FS
type: SiteQuality
SIO_000300: 3.103e0

VQSLOD
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4374
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 2.537e0

QD
type: SiteQuality
SIO_000300: 1.232e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.435e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 2.263408e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27238
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.435e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.869e1

FS
type: SiteQuality
SIO_000300: 2.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 2.263408e6

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

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

GenotypeQuality
all individuals: 2491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27237
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.429e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.902e0

VQSLOD
type: SiteQuality
SIO_000300: -3.816e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e0

DP
type: SiteQuality
SIO_000300: 2.263664e6

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.378e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 2.263745e6

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

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

GenotypeQuality
all individuals: 4370
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

MQRankSum
type: SiteQuality
SIO_000300: -1.916e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

DP
type: SiteQuality
SIO_000300: 2.263949e6

GenotypeQuality
all individuals: 12483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.173e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

DP
type: SiteQuality
SIO_000300: 2.263984e6

QD
type: SiteQuality
SIO_000300: 9.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 7.846e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12483
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049884512703603e-4
allele num: 66674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.36e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 2.264387e6

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

GenotypeQuality
all individuals: 4374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2484
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 2.264112e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 4.438e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e0

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

GenotypeQuality
all individuals: 3645
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12460
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 4.309e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.49e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.263865e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12460
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.309e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 2.263865e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 3947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
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variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12449
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: 7.1e-1

FS
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.26366e6

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

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

GenotypeQuality
all individuals: 2304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: -2.85e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

FS
type: SiteQuality
SIO_000300: 7.313e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 2.263597e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27241
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: -6.733e-1

DP
type: SiteQuality
SIO_000300: 2.263075e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.468999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 7
allele frequency: 6.788207913110939e-4
allele num: 10312
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.328254847645429e-4
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.889306954727515e-4
allele num: 16478
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 187
allele frequency: 2.807133421400264e-3
allele num: 66616
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.024803387779794e-3
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
type: SiteQuality
SIO_000300: 2.276349e6

QD
type: SiteQuality
SIO_000300: 1.301e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2471
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GenotypeQuality
all individuals: 12356
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

FS
type: SiteQuality
SIO_000300: 3.549e0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 2.270558e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.609e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.223e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 27318
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3939
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

FS
type: SiteQuality
SIO_000300: 9.135999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.405e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

DP
type: SiteQuality
SIO_000300: 2.269174e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

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

GenotypeQuality
all individuals: 3941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27319
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0