2-234681040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681040
    reference: chr 2
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1440C>T
  hgvsp: ENST00000608381.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1440C>T
  hgvsp: ENST00000373409.3:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1428C>T
  hgvsp: ENST00000609637.1:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1440C>T
  hgvsp: ENST00000482026.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1434C>T
  hgvsp: ENST00000305139.6:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1428C>T
  hgvsp: ENST00000373426.3:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1440C>T
  hgvsp: ENST00000373414.3:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1428C>T
  hgvsp: ENST00000373450.4:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1428C>T
  hgvsp: ENST00000354728.4:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1437C>T
  hgvsp: ENST00000608383.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1440C>T
  hgvsp: ENST00000609767.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1428C>T
  hgvsp: ENST00000344644.5:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1437C>T
  hgvsp: ENST00000305208.5:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.633C>T
  hgvsp: ENST00000373424.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*236C>T
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His480His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-234681040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681040
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.633C>A
  hgvsp: ENSP00000362523.1:p.His211Gln
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1428C>A
  hgvsp: ENSP00000346768.4:p.His476Gln
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1440C>A
  hgvsp: ENSP00000476805.1:p.His480Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1440C>A
  hgvsp: ENSP00000418532.1:p.His480Gln
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1434C>A
  hgvsp: ENSP00000303174.6:p.His478Gln
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1440C>A
  hgvsp: ENSP00000477394.1:p.His480Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*236C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1437C>A
  hgvsp: ENSP00000476741.1:p.His479Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1428C>A
  hgvsp: ENSP00000362549.4:p.His476Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1440C>A
  hgvsp: ENSP00000362508.3:p.His480Gln
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1440C>A
  hgvsp: ENSP00000362513.3:p.His480Gln
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1437C>A
  hgvsp: ENSP00000304845.5:p.His479Gln
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1428C>A
  hgvsp: ENSP00000476286.1:p.His476Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1428C>A
  hgvsp: ENSP00000343838.5:p.His476Gln
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1428C>A
  hgvsp: ENSP00000362525.3:p.His476Gln
  variant of: http://identifiers.org/hgnc/12539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His480Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-234681041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681041
    reference: chr 2
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1441G>A
  hgvsp: ENSP00000418532.1:p.Asp481Asn
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1429G>A
  hgvsp: ENSP00000346768.4:p.Asp477Asn
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1441G>A
  hgvsp: ENSP00000362513.3:p.Asp481Asn
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1438G>A
  hgvsp: ENSP00000476741.1:p.Asp480Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1441G>A
  hgvsp: ENSP00000477394.1:p.Asp481Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1435G>A
  hgvsp: ENSP00000303174.6:p.Asp479Asn
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.634G>A
  hgvsp: ENSP00000362523.1:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1441G>A
  hgvsp: ENSP00000362508.3:p.Asp481Asn
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1429G>A
  hgvsp: ENSP00000343838.5:p.Asp477Asn
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1429G>A
  hgvsp: ENSP00000362549.4:p.Asp477Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*237G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1438G>A
  hgvsp: ENSP00000304845.5:p.Asp480Asn
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1429G>A
  hgvsp: ENSP00000476286.1:p.Asp477Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1429G>A
  hgvsp: ENSP00000362525.3:p.Asp477Asn
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1441G>A
  hgvsp: ENSP00000476805.1:p.Asp481Asn
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp481Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-234681053-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681053
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1441T>C
  hgvsp: ENSP00000343838.5:p.Tyr481His
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1441T>C
  hgvsp: ENSP00000362525.3:p.Tyr481His
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1441T>C
  hgvsp: ENSP00000362549.4:p.Tyr481His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*249T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1453T>C
  hgvsp: ENSP00000418532.1:p.Tyr485His
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1450T>C
  hgvsp: ENSP00000476741.1:p.Tyr484His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.646T>C
  hgvsp: ENSP00000362523.1:p.Tyr216His
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1447T>C
  hgvsp: ENSP00000303174.6:p.Tyr483His
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1441T>C
  hgvsp: ENSP00000476286.1:p.Tyr481His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1453T>C
  hgvsp: ENSP00000476805.1:p.Tyr485His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1441T>C
  hgvsp: ENSP00000346768.4:p.Tyr481His
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1453T>C
  hgvsp: ENSP00000362508.3:p.Tyr485His
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1450T>C
  hgvsp: ENSP00000304845.5:p.Tyr484His
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1453T>C
  hgvsp: ENSP00000477394.1:p.Tyr485His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1453T>C
  hgvsp: ENSP00000362513.3:p.Tyr485His
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr485His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

2-234681055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681055
    reference: chr 2
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.648C>T
  hgvsp: ENST00000373424.1:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1443C>T
  hgvsp: ENST00000373426.3:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1455C>T
  hgvsp: ENST00000482026.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1443C>T
  hgvsp: ENST00000609637.1:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1455C>T
  hgvsp: ENST00000609767.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1452C>T
  hgvsp: ENST00000305208.5:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1455C>T
  hgvsp: ENST00000608381.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1443C>T
  hgvsp: ENST00000344644.5:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1443C>T
  hgvsp: ENST00000373450.4:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*251C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1455C>T
  hgvsp: ENST00000373409.3:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1449C>T
  hgvsp: ENST00000305139.6:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1455C>T
  hgvsp: ENST00000373414.3:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1452C>T
  hgvsp: ENST00000608383.1:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1443C>T
  hgvsp: ENST00000354728.4:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr485Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

2-234681059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681059
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1456T>C
  hgvsp: ENSP00000476741.1:p.Tyr486His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1459T>C
  hgvsp: ENSP00000362508.3:p.Tyr487His
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1447T>C
  hgvsp: ENSP00000362525.3:p.Tyr483His
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1447T>C
  hgvsp: ENSP00000476286.1:p.Tyr483His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1459T>C
  hgvsp: ENSP00000476805.1:p.Tyr487His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1447T>C
  hgvsp: ENSP00000362549.4:p.Tyr483His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1459T>C
  hgvsp: ENSP00000477394.1:p.Tyr487His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1459T>C
  hgvsp: ENSP00000418532.1:p.Tyr487His
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.652T>C
  hgvsp: ENSP00000362523.1:p.Tyr218His
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1447T>C
  hgvsp: ENSP00000346768.4:p.Tyr483His
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*255T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1453T>C
  hgvsp: ENSP00000303174.6:p.Tyr485His
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1456T>C
  hgvsp: ENSP00000304845.5:p.Tyr486His
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1447T>C
  hgvsp: ENSP00000343838.5:p.Tyr483His
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1459T>C
  hgvsp: ENSP00000362513.3:p.Tyr487His
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr487His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

2-234681059-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681059
    reference: chr 2
allele count: 18
allele frequency: 1.482652960363744e-4
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1453T>G
  hgvsp: ENSP00000303174.6:p.Tyr485Asp
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1459T>G
  hgvsp: ENSP00000362508.3:p.Tyr487Asp
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1447T>G
  hgvsp: ENSP00000346768.4:p.Tyr483Asp
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*255T>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1447T>G
  hgvsp: ENSP00000343838.5:p.Tyr483Asp
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1459T>G
  hgvsp: ENSP00000477394.1:p.Tyr487Asp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1447T>G
  hgvsp: ENSP00000362549.4:p.Tyr483Asp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1447T>G
  hgvsp: ENSP00000362525.3:p.Tyr483Asp
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.652T>G
  hgvsp: ENSP00000362523.1:p.Tyr218Asp
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1459T>G
  hgvsp: ENSP00000418532.1:p.Tyr487Asp
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1447T>G
  hgvsp: ENSP00000476286.1:p.Tyr483Asp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1459T>G
  hgvsp: ENSP00000476805.1:p.Tyr487Asp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1456T>G
  hgvsp: ENSP00000304845.5:p.Tyr486Asp
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1459T>G
  hgvsp: ENSP00000362513.3:p.Tyr487Asp
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1456T>G
  hgvsp: ENSP00000476741.1:p.Tyr486Asp
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr487Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

2-234681061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681061
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681061
    reference: chr 2
allele count: 7
allele frequency: 5.765872623636783e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1458C>T
  hgvsp: ENST00000608383.1:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1461C>T
  hgvsp: ENST00000608381.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1461C>T
  hgvsp: ENST00000373414.3:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*257C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1461C>T
  hgvsp: ENST00000373409.3:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1449C>T
  hgvsp: ENST00000354728.4:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1449C>T
  hgvsp: ENST00000609637.1:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1449C>T
  hgvsp: ENST00000373426.3:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1461C>T
  hgvsp: ENST00000482026.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.654C>T
  hgvsp: ENST00000373424.1:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1449C>T
  hgvsp: ENST00000373450.4:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1458C>T
  hgvsp: ENST00000305208.5:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1449C>T
  hgvsp: ENST00000344644.5:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1461C>T
  hgvsp: ENST00000609767.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1455C>T
  hgvsp: ENST00000305139.6:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr487Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

2-234681062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681062
    reference: chr 2
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.655C>T
  hgvsp: ENSP00000362523.1:p.His219Tyr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1450C>T
  hgvsp: ENSP00000343838.5:p.His484Tyr
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1462C>T
  hgvsp: ENSP00000476805.1:p.His488Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1462C>T
  hgvsp: ENSP00000418532.1:p.His488Tyr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1450C>T
  hgvsp: ENSP00000362525.3:p.His484Tyr
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1459C>T
  hgvsp: ENSP00000476741.1:p.His487Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1462C>T
  hgvsp: ENSP00000362508.3:p.His488Tyr
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1459C>T
  hgvsp: ENSP00000304845.5:p.His487Tyr
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1456C>T
  hgvsp: ENSP00000303174.6:p.His486Tyr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1450C>T
  hgvsp: ENSP00000346768.4:p.His484Tyr
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1462C>T
  hgvsp: ENSP00000362513.3:p.His488Tyr
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1450C>T
  hgvsp: ENSP00000476286.1:p.His484Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1462C>T
  hgvsp: ENSP00000477394.1:p.His488Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1450C>T
  hgvsp: ENSP00000362549.4:p.His484Tyr
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His488Tyr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-234681064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681064
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1458T>C
  hgvsp: ENST00000305139.6:c.1458T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1464T>C
  hgvsp: ENST00000608381.1:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1452T>C
  hgvsp: ENST00000609637.1:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1452T>C
  hgvsp: ENST00000373426.3:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.657T>C
  hgvsp: ENST00000373424.1:c.657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*260T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1464T>C
  hgvsp: ENST00000609767.1:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1461T>C
  hgvsp: ENST00000305208.5:c.1461T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1452T>C
  hgvsp: ENST00000354728.4:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1461T>C
  hgvsp: ENST00000608383.1:c.1461T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1452T>C
  hgvsp: ENST00000373450.4:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1464T>C
  hgvsp: ENST00000373409.3:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1464T>C
  hgvsp: ENST00000373414.3:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1464T>C
  hgvsp: ENST00000482026.1:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1452T>C
  hgvsp: ENST00000344644.5:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His488His
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-234681073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681073
    reference: chr 2
allele count: 7
allele frequency: 5.765777638666952e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1470C>T
  hgvsp: ENST00000608383.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1461C>T
  hgvsp: ENST00000609637.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1473C>T
  hgvsp: ENST00000608381.1:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.666C>T
  hgvsp: ENST00000373424.1:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1473C>T
  hgvsp: ENST00000373409.3:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1461C>T
  hgvsp: ENST00000373450.4:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1473C>T
  hgvsp: ENST00000609767.1:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1461C>T
  hgvsp: ENST00000373426.3:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1473C>T
  hgvsp: ENST00000373414.3:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1473C>T
  hgvsp: ENST00000482026.1:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1461C>T
  hgvsp: ENST00000354728.4:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1467C>T
  hgvsp: ENST00000305139.6:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1470C>T
  hgvsp: ENST00000305208.5:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1461C>T
  hgvsp: ENST00000344644.5:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*269C>T
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Asp491Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-234681074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681074
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.667G>A
  hgvsp: ENSP00000362523.1:p.Val223Met
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1471G>A
  hgvsp: ENSP00000304845.5:p.Val491Met
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1462G>A
  hgvsp: ENSP00000343838.5:p.Val488Met
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1474G>A
  hgvsp: ENSP00000477394.1:p.Val492Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1462G>A
  hgvsp: ENSP00000476286.1:p.Val488Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1474G>A
  hgvsp: ENSP00000418532.1:p.Val492Met
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1468G>A
  hgvsp: ENSP00000303174.6:p.Val490Met
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1474G>A
  hgvsp: ENSP00000362513.3:p.Val492Met
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*270G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1471G>A
  hgvsp: ENSP00000476741.1:p.Val491Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1474G>A
  hgvsp: ENSP00000362508.3:p.Val492Met
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1462G>A
  hgvsp: ENSP00000362525.3:p.Val488Met
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1474G>A
  hgvsp: ENSP00000476805.1:p.Val492Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1462G>A
  hgvsp: ENSP00000346768.4:p.Val488Met
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1462G>A
  hgvsp: ENSP00000362549.4:p.Val488Met
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val492Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-234681078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681078
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681078
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*274T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1478T>C
  hgvsp: ENSP00000362513.3:p.Ile493Thr
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1466T>C
  hgvsp: ENSP00000343838.5:p.Ile489Thr
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.671T>C
  hgvsp: ENSP00000362523.1:p.Ile224Thr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1466T>C
  hgvsp: ENSP00000362525.3:p.Ile489Thr
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1478T>C
  hgvsp: ENSP00000362508.3:p.Ile493Thr
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1466T>C
  hgvsp: ENSP00000476286.1:p.Ile489Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1475T>C
  hgvsp: ENSP00000304845.5:p.Ile492Thr
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1478T>C
  hgvsp: ENSP00000476805.1:p.Ile493Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1466T>C
  hgvsp: ENSP00000362549.4:p.Ile489Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1478T>C
  hgvsp: ENSP00000418532.1:p.Ile493Thr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1478T>C
  hgvsp: ENSP00000477394.1:p.Ile493Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1472T>C
  hgvsp: ENSP00000303174.6:p.Ile491Thr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1475T>C
  hgvsp: ENSP00000476741.1:p.Ile492Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1466T>C
  hgvsp: ENSP00000346768.4:p.Ile489Thr
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile493Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-234681094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681094
    reference: chr 2
allele count: 20
allele frequency: 1.647337901950448e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1494C>T
  hgvsp: ENST00000373409.3:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1491C>T
  hgvsp: ENST00000305208.5:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1482C>T
  hgvsp: ENST00000373426.3:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1488C>T
  hgvsp: ENST00000305139.6:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1491C>T
  hgvsp: ENST00000608383.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1482C>T
  hgvsp: ENST00000354728.4:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*290C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.687C>T
  hgvsp: ENST00000373424.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1482C>T
  hgvsp: ENST00000609637.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1494C>T
  hgvsp: ENST00000373414.3:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1494C>T
  hgvsp: ENST00000482026.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1494C>T
  hgvsp: ENST00000608381.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1482C>T
  hgvsp: ENST00000344644.5:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1494C>T
  hgvsp: ENST00000609767.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1482C>T
  hgvsp: ENST00000373450.4:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala498Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-234681095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681095
    reference: chr 2
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1495G>A
  hgvsp: ENSP00000476805.1:p.Val499Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1489G>A
  hgvsp: ENSP00000303174.6:p.Val497Ile
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1492G>A
  hgvsp: ENSP00000304845.5:p.Val498Ile
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.688G>A
  hgvsp: ENSP00000362523.1:p.Val230Ile
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1495G>A
  hgvsp: ENSP00000362513.3:p.Val499Ile
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1492G>A
  hgvsp: ENSP00000476741.1:p.Val498Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1483G>A
  hgvsp: ENSP00000476286.1:p.Val495Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1495G>A
  hgvsp: ENSP00000477394.1:p.Val499Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1483G>A
  hgvsp: ENSP00000346768.4:p.Val495Ile
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1483G>A
  hgvsp: ENSP00000362549.4:p.Val495Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1495G>A
  hgvsp: ENSP00000362508.3:p.Val499Ile
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1495G>A
  hgvsp: ENSP00000418532.1:p.Val499Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1483G>A
  hgvsp: ENSP00000343838.5:p.Val495Ile
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1483G>A
  hgvsp: ENSP00000362525.3:p.Val495Ile
  variant of: http://identifiers.org/hgnc/12539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val499Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

2-234681098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681098
    reference: chr 2
allele count: 10
allele frequency: 8.236689509752241e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1495G>A
  hgvsp: ENSP00000304845.5:p.Val499Met
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1498G>A
  hgvsp: ENSP00000418532.1:p.Val500Met
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*294G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1486G>A
  hgvsp: ENSP00000346768.4:p.Val496Met
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1495G>A
  hgvsp: ENSP00000476741.1:p.Val499Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1498G>A
  hgvsp: ENSP00000362513.3:p.Val500Met
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1498G>A
  hgvsp: ENSP00000477394.1:p.Val500Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1486G>A
  hgvsp: ENSP00000362549.4:p.Val496Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1498G>A
  hgvsp: ENSP00000476805.1:p.Val500Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.691G>A
  hgvsp: ENSP00000362523.1:p.Val231Met
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1486G>A
  hgvsp: ENSP00000476286.1:p.Val496Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1492G>A
  hgvsp: ENSP00000303174.6:p.Val498Met
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1486G>A
  hgvsp: ENSP00000343838.5:p.Val496Met
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1498G>A
  hgvsp: ENSP00000362508.3:p.Val500Met
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1486G>A
  hgvsp: ENSP00000362525.3:p.Val496Met
  variant of: http://identifiers.org/hgnc/12539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val500Met
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234681098-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681098
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1486G>C
  hgvsp: ENSP00000362549.4:p.Val496Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1486G>C
  hgvsp: ENSP00000346768.4:p.Val496Leu
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1492G>C
  hgvsp: ENSP00000303174.6:p.Val498Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1498G>C
  hgvsp: ENSP00000477394.1:p.Val500Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*294G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.691G>C
  hgvsp: ENSP00000362523.1:p.Val231Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1486G>C
  hgvsp: ENSP00000343838.5:p.Val496Leu
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1498G>C
  hgvsp: ENSP00000418532.1:p.Val500Leu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1486G>C
  hgvsp: ENSP00000476286.1:p.Val496Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1498G>C
  hgvsp: ENSP00000476805.1:p.Val500Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1495G>C
  hgvsp: ENSP00000304845.5:p.Val499Leu
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1498G>C
  hgvsp: ENSP00000362508.3:p.Val500Leu
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1486G>C
  hgvsp: ENSP00000362525.3:p.Val496Leu
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1495G>C
  hgvsp: ENSP00000476741.1:p.Val499Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1498G>C
  hgvsp: ENSP00000362513.3:p.Val500Leu
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val500Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-234681102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681102
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.695T>C
  hgvsp: ENSP00000362523.1:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1490T>C
  hgvsp: ENSP00000362525.3:p.Leu497Pro
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1490T>C
  hgvsp: ENSP00000346768.4:p.Leu497Pro
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1502T>C
  hgvsp: ENSP00000362513.3:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1490T>C
  hgvsp: ENSP00000476286.1:p.Leu497Pro
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1496T>C
  hgvsp: ENSP00000303174.6:p.Leu499Pro
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1502T>C
  hgvsp: ENSP00000362508.3:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1502T>C
  hgvsp: ENSP00000418532.1:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1502T>C
  hgvsp: ENSP00000476805.1:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1499T>C
  hgvsp: ENSP00000304845.5:p.Leu500Pro
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1499T>C
  hgvsp: ENSP00000476741.1:p.Leu500Pro
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*298T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1502T>C
  hgvsp: ENSP00000477394.1:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1490T>C
  hgvsp: ENSP00000343838.5:p.Leu497Pro
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1490T>C
  hgvsp: ENSP00000362549.4:p.Leu497Pro
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu501Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-234681107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681107
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681107
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1504G>A
  hgvsp: ENSP00000476741.1:p.Val502Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1507G>A
  hgvsp: ENSP00000418532.1:p.Val503Met
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1507G>A
  hgvsp: ENSP00000477394.1:p.Val503Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1495G>A
  hgvsp: ENSP00000343838.5:p.Val499Met
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.700G>A
  hgvsp: ENSP00000362523.1:p.Val234Met
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1495G>A
  hgvsp: ENSP00000346768.4:p.Val499Met
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1495G>A
  hgvsp: ENSP00000476286.1:p.Val499Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1507G>A
  hgvsp: ENSP00000362513.3:p.Val503Met
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1495G>A
  hgvsp: ENSP00000362525.3:p.Val499Met
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1507G>A
  hgvsp: ENSP00000362508.3:p.Val503Met
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1495G>A
  hgvsp: ENSP00000362549.4:p.Val499Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1504G>A
  hgvsp: ENSP00000304845.5:p.Val502Met
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*303G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1507G>A
  hgvsp: ENSP00000476805.1:p.Val503Met
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1501G>A
  hgvsp: ENSP00000303174.6:p.Val501Met
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val503Met
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234681108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681108
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681108
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1508T>C
  hgvsp: ENSP00000476805.1:p.Val503Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1496T>C
  hgvsp: ENSP00000343838.5:p.Val499Ala
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1508T>C
  hgvsp: ENSP00000362513.3:p.Val503Ala
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*304T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1502T>C
  hgvsp: ENSP00000303174.6:p.Val501Ala
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1496T>C
  hgvsp: ENSP00000476286.1:p.Val499Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1508T>C
  hgvsp: ENSP00000362508.3:p.Val503Ala
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1496T>C
  hgvsp: ENSP00000362549.4:p.Val499Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1496T>C
  hgvsp: ENSP00000362525.3:p.Val499Ala
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1508T>C
  hgvsp: ENSP00000477394.1:p.Val503Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1505T>C
  hgvsp: ENSP00000304845.5:p.Val502Ala
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1508T>C
  hgvsp: ENSP00000418532.1:p.Val503Ala
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1505T>C
  hgvsp: ENSP00000476741.1:p.Val502Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.701T>C
  hgvsp: ENSP00000362523.1:p.Val234Ala
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1496T>C
  hgvsp: ENSP00000346768.4:p.Val499Ala
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val503Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

2-234681113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681113
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681113
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1513T>C
  hgvsp: ENSP00000418532.1:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1507T>C
  hgvsp: ENSP00000303174.6:p.Phe503Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1501T>C
  hgvsp: ENSP00000362525.3:p.Phe501Leu
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*309T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1501T>C
  hgvsp: ENSP00000362549.4:p.Phe501Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1513T>C
  hgvsp: ENSP00000362508.3:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1513T>C
  hgvsp: ENSP00000477394.1:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1513T>C
  hgvsp: ENSP00000362513.3:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1513T>C
  hgvsp: ENSP00000476805.1:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1501T>C
  hgvsp: ENSP00000346768.4:p.Phe501Leu
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1510T>C
  hgvsp: ENSP00000476741.1:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.706T>C
  hgvsp: ENSP00000362523.1:p.Phe236Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1510T>C
  hgvsp: ENSP00000304845.5:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1501T>C
  hgvsp: ENSP00000476286.1:p.Phe501Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1501T>C
  hgvsp: ENSP00000343838.5:p.Phe501Leu
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe505Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-234681114-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681114
    reference: chr 2
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1514T>A
  hgvsp: ENSP00000362513.3:p.Phe505Tyr
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.707T>A
  hgvsp: ENSP00000362523.1:p.Phe236Tyr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1514T>A
  hgvsp: ENSP00000477394.1:p.Phe505Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1514T>A
  hgvsp: ENSP00000362508.3:p.Phe505Tyr
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1514T>A
  hgvsp: ENSP00000476805.1:p.Phe505Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1508T>A
  hgvsp: ENSP00000303174.6:p.Phe503Tyr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1502T>A
  hgvsp: ENSP00000346768.4:p.Phe501Tyr
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1514T>A
  hgvsp: ENSP00000418532.1:p.Phe505Tyr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1502T>A
  hgvsp: ENSP00000476286.1:p.Phe501Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1511T>A
  hgvsp: ENSP00000304845.5:p.Phe504Tyr
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1511T>A
  hgvsp: ENSP00000476741.1:p.Phe504Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1502T>A
  hgvsp: ENSP00000362525.3:p.Phe501Tyr
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*310T>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1502T>A
  hgvsp: ENSP00000362549.4:p.Phe501Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1502T>A
  hgvsp: ENSP00000343838.5:p.Phe501Tyr
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe505Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-234681119-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681118
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1521delC
  hgvsp: ENSP00000362513.3:p.Phe508LeufsTer38
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*317delC
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1509delC
  hgvsp: ENSP00000362525.3:p.Phe504LeufsTer38
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.714delC
  hgvsp: ENSP00000362523.1:p.Phe239LeufsTer38
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1521delC
  hgvsp: ENSP00000477394.1:p.Phe508LeufsTer38
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1509delC
  hgvsp: ENSP00000343838.5:p.Phe504LeufsTer38
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1521delC
  hgvsp: ENSP00000476805.1:p.Phe508LeufsTer38
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1515delC
  hgvsp: ENSP00000303174.6:p.Phe506LeufsTer38
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1518delC
  hgvsp: ENSP00000304845.5:p.Phe507LeufsTer38
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1509delC
  hgvsp: ENSP00000476286.1:p.Phe504LeufsTer38
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1521delC
  hgvsp: ENSP00000362508.3:p.Phe508LeufsTer38
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1509delC
  hgvsp: ENSP00000346768.4:p.Phe504LeufsTer38
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1518delC
  hgvsp: ENSP00000476741.1:p.Phe507LeufsTer?
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1521delC
  hgvsp: ENSP00000418532.1:p.Phe508LeufsTer38
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1509delC
  hgvsp: ENSP00000362549.4:p.Phe504LeufsTer38
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe508LeufsTer38
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: AC
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-234681121-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681121
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681121
    reference: chr 2
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1518C>A
  hgvsp: ENST00000305208.5:c.1518C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1515C>A
  hgvsp: ENST00000305139.6:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1521C>A
  hgvsp: ENST00000608381.1:c.1521C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1518C>A
  hgvsp: ENST00000608383.1:c.1518C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1509C>A
  hgvsp: ENST00000373450.4:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1521C>A
  hgvsp: ENST00000482026.1:c.1521C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1521C>A
  hgvsp: ENST00000609767.1:c.1521C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1509C>A
  hgvsp: ENST00000609637.1:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1521C>A
  hgvsp: ENST00000373409.3:c.1521C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*317C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1509C>A
  hgvsp: ENST00000373426.3:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1509C>A
  hgvsp: ENST00000344644.5:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.714C>A
  hgvsp: ENST00000373424.1:c.714C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1521C>A
  hgvsp: ENST00000373414.3:c.1521C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1509C>A
  hgvsp: ENST00000354728.4:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr507Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-234681121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681121
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681121
    reference: chr 2
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1521C>T
  hgvsp: ENST00000608381.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1521C>T
  hgvsp: ENST00000609767.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1518C>T
  hgvsp: ENST00000608383.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1509C>T
  hgvsp: ENST00000344644.5:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1509C>T
  hgvsp: ENST00000609637.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.714C>T
  hgvsp: ENST00000373424.1:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1515C>T
  hgvsp: ENST00000305139.6:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1509C>T
  hgvsp: ENST00000373426.3:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1509C>T
  hgvsp: ENST00000354728.4:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1521C>T
  hgvsp: ENST00000373409.3:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1518C>T
  hgvsp: ENST00000305208.5:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1521C>T
  hgvsp: ENST00000482026.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1509C>T
  hgvsp: ENST00000373450.4:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*317C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1521C>T
  hgvsp: ENST00000373414.3:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr507Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-234681127-ATGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681127
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681124
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1531_1533delTGT
  hgvsp: ENSP00000476805.1:p.Cys511del
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1528_1530delTGT
  hgvsp: ENSP00000304845.5:p.Cys510del
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1519_1521delTGT
  hgvsp: ENSP00000362525.3:p.Cys507del
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.724_726delTGT
  hgvsp: ENSP00000362523.1:p.Cys242del
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1531_1533delTGT
  hgvsp: ENSP00000362513.3:p.Cys511del
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1519_1521delTGT
  hgvsp: ENSP00000346768.4:p.Cys507del
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1519_1521delTGT
  hgvsp: ENSP00000362549.4:p.Cys507del
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1525_1527delTGT
  hgvsp: ENSP00000303174.6:p.Cys509del
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1528_1530delTGT
  hgvsp: ENSP00000476741.1:p.Cys510del
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1531_1533delTGT
  hgvsp: ENSP00000477394.1:p.Cys511del
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1531_1533delTGT
  hgvsp: ENSP00000418532.1:p.Cys511del
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1519_1521delTGT
  hgvsp: ENSP00000343838.5:p.Cys507del
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1531_1533delTGT
  hgvsp: ENSP00000362508.3:p.Cys511del
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*327_*329delTGT
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1519_1521delTGT
  hgvsp: ENSP00000476286.1:p.Cys507del
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys511del
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: ATGT
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234681128-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681128
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.721T>G
  hgvsp: ENSP00000362523.1:p.Cys241Gly
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1525T>G
  hgvsp: ENSP00000476741.1:p.Cys509Gly
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1525T>G
  hgvsp: ENSP00000304845.5:p.Cys509Gly
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1516T>G
  hgvsp: ENSP00000346768.4:p.Cys506Gly
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*324T>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1528T>G
  hgvsp: ENSP00000362508.3:p.Cys510Gly
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1516T>G
  hgvsp: ENSP00000362525.3:p.Cys506Gly
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1516T>G
  hgvsp: ENSP00000362549.4:p.Cys506Gly
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1522T>G
  hgvsp: ENSP00000303174.6:p.Cys508Gly
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1516T>G
  hgvsp: ENSP00000476286.1:p.Cys506Gly
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1528T>G
  hgvsp: ENSP00000477394.1:p.Cys510Gly
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1516T>G
  hgvsp: ENSP00000343838.5:p.Cys506Gly
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1528T>G
  hgvsp: ENSP00000418532.1:p.Cys510Gly
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1528T>G
  hgvsp: ENSP00000362513.3:p.Cys510Gly
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1528T>G
  hgvsp: ENSP00000476805.1:p.Cys510Gly
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys510Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-234681139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681139
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681139
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1539T>C
  hgvsp: ENST00000609767.1:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1536T>C
  hgvsp: ENST00000305208.5:c.1536T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1536T>C
  hgvsp: ENST00000608383.1:c.1536T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1539T>C
  hgvsp: ENST00000482026.1:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.732T>C
  hgvsp: ENST00000373424.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1533T>C
  hgvsp: ENST00000305139.6:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1539T>C
  hgvsp: ENST00000373414.3:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1539T>C
  hgvsp: ENST00000373409.3:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1539T>C
  hgvsp: ENST00000608381.1:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*335T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1527T>C
  hgvsp: ENST00000344644.5:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1527T>C
  hgvsp: ENST00000609637.1:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1527T>C
  hgvsp: ENST00000373450.4:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1527T>C
  hgvsp: ENST00000373426.3:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1527T>C
  hgvsp: ENST00000354728.4:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr513Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-234681145-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681145
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681145
    reference: chr 2
allele count: 43
allele frequency: 3.572140626038413e-4
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1533C>A
  hgvsp: ENSP00000476286.1:p.Tyr511Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1545C>A
  hgvsp: ENSP00000362513.3:p.Tyr515Ter
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1545C>A
  hgvsp: ENSP00000477394.1:p.Tyr515Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.738C>A
  hgvsp: ENSP00000362523.1:p.Tyr246Ter
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1542C>A
  hgvsp: ENSP00000476741.1:p.Tyr514Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1545C>A
  hgvsp: ENSP00000362508.3:p.Tyr515Ter
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1533C>A
  hgvsp: ENSP00000362525.3:p.Tyr511Ter
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*341C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1539C>A
  hgvsp: ENSP00000303174.6:p.Tyr513Ter
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1545C>A
  hgvsp: ENSP00000418532.1:p.Tyr515Ter
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1533C>A
  hgvsp: ENSP00000362549.4:p.Tyr511Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1542C>A
  hgvsp: ENSP00000304845.5:p.Tyr514Ter
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1545C>A
  hgvsp: ENSP00000476805.1:p.Tyr515Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1533C>A
  hgvsp: ENSP00000343838.5:p.Tyr511Ter
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1533C>A
  hgvsp: ENSP00000346768.4:p.Tyr511Ter
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Tyr515Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-234681147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681147
    reference: chr 2
allele count: 4
allele frequency: 3.298316209575012e-5
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1535G>A
  hgvsp: ENSP00000343838.5:p.Arg512Gln
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*343G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1547G>A
  hgvsp: ENSP00000476805.1:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1535G>A
  hgvsp: ENSP00000362525.3:p.Arg512Gln
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1535G>A
  hgvsp: ENSP00000476286.1:p.Arg512Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.740G>A
  hgvsp: ENSP00000362523.1:p.Arg247Gln
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1547G>A
  hgvsp: ENSP00000477394.1:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1547G>A
  hgvsp: ENSP00000362508.3:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1547G>A
  hgvsp: ENSP00000362513.3:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1544G>A
  hgvsp: ENSP00000476741.1:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1535G>A
  hgvsp: ENSP00000362549.4:p.Arg512Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1535G>A
  hgvsp: ENSP00000346768.4:p.Arg512Gln
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1541G>A
  hgvsp: ENSP00000303174.6:p.Arg514Gln
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1544G>A
  hgvsp: ENSP00000304845.5:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1547G>A
  hgvsp: ENSP00000418532.1:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/12535
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg516Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234681147-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681147
    reference: chr 2
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1547G>T
  hgvsp: ENSP00000477394.1:p.Arg516Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*343G>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1535G>T
  hgvsp: ENSP00000362525.3:p.Arg512Leu
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1535G>T
  hgvsp: ENSP00000362549.4:p.Arg512Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1547G>T
  hgvsp: ENSP00000418532.1:p.Arg516Leu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1547G>T
  hgvsp: ENSP00000362513.3:p.Arg516Leu
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1544G>T
  hgvsp: ENSP00000476741.1:p.Arg515Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1541G>T
  hgvsp: ENSP00000303174.6:p.Arg514Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1535G>T
  hgvsp: ENSP00000476286.1:p.Arg512Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1535G>T
  hgvsp: ENSP00000346768.4:p.Arg512Leu
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1544G>T
  hgvsp: ENSP00000304845.5:p.Arg515Leu
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1547G>T
  hgvsp: ENSP00000362508.3:p.Arg516Leu
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.740G>T
  hgvsp: ENSP00000362523.1:p.Arg247Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1547G>T
  hgvsp: ENSP00000476805.1:p.Arg516Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1535G>T
  hgvsp: ENSP00000343838.5:p.Arg512Leu
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 34031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg516Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234681151-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681151
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681151
    reference: chr 2
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.744A>T
  hgvsp: ENSP00000362523.1:p.Lys248Asn
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1539A>T
  hgvsp: ENSP00000362549.4:p.Lys513Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1551A>T
  hgvsp: ENSP00000476805.1:p.Lys517Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1545A>T
  hgvsp: ENSP00000303174.6:p.Lys515Asn
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1551A>T
  hgvsp: ENSP00000418532.1:p.Lys517Asn
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1539A>T
  hgvsp: ENSP00000476286.1:p.Lys513Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1551A>T
  hgvsp: ENSP00000362508.3:p.Lys517Asn
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1551A>T
  hgvsp: ENSP00000362513.3:p.Lys517Asn
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1551A>T
  hgvsp: ENSP00000477394.1:p.Lys517Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1548A>T
  hgvsp: ENSP00000476741.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1539A>T
  hgvsp: ENSP00000362525.3:p.Lys513Asn
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1539A>T
  hgvsp: ENSP00000343838.5:p.Lys513Asn
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1548A>T
  hgvsp: ENSP00000304845.5:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1539A>T
  hgvsp: ENSP00000346768.4:p.Lys513Asn
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*347A>T
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys517Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-234681161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681161
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681161
    reference: chr 2
allele count: 4
allele frequency: 3.309450134860093e-5
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1549A>G
  hgvsp: ENSP00000343838.5:p.Lys517Glu
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1558A>G
  hgvsp: ENSP00000304845.5:p.Lys520Glu
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1549A>G
  hgvsp: ENSP00000476286.1:p.Lys517Glu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1549A>G
  hgvsp: ENSP00000362525.3:p.Lys517Glu
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1561A>G
  hgvsp: ENSP00000362508.3:p.Lys521Glu
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*357A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1558A>G
  hgvsp: ENSP00000476741.1:p.Lys520Glu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1561A>G
  hgvsp: ENSP00000477394.1:p.Lys521Glu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.754A>G
  hgvsp: ENSP00000362523.1:p.Lys252Glu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1561A>G
  hgvsp: ENSP00000476805.1:p.Lys521Glu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1561A>G
  hgvsp: ENSP00000418532.1:p.Lys521Glu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1549A>G
  hgvsp: ENSP00000346768.4:p.Lys517Glu
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1555A>G
  hgvsp: ENSP00000303174.6:p.Lys519Glu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1549A>G
  hgvsp: ENSP00000362549.4:p.Lys517Glu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1561A>G
  hgvsp: ENSP00000362513.3:p.Lys521Glu
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys521Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-234681167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681167
    reference: chr 2
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1555G>A
  hgvsp: ENSP00000343838.5:p.Gly519Arg
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1564G>A
  hgvsp: ENSP00000476741.1:p.Gly522Arg
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1567G>A
  hgvsp: ENSP00000362508.3:p.Gly523Arg
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1555G>A
  hgvsp: ENSP00000362525.3:p.Gly519Arg
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1555G>A
  hgvsp: ENSP00000476286.1:p.Gly519Arg
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1561G>A
  hgvsp: ENSP00000303174.6:p.Gly521Arg
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1567G>A
  hgvsp: ENSP00000418532.1:p.Gly523Arg
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.760G>A
  hgvsp: ENSP00000362523.1:p.Gly254Arg
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1555G>A
  hgvsp: ENSP00000362549.4:p.Gly519Arg
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*363G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1555G>A
  hgvsp: ENSP00000346768.4:p.Gly519Arg
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1567G>A
  hgvsp: ENSP00000477394.1:p.Gly523Arg
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1567G>A
  hgvsp: ENSP00000476805.1:p.Gly523Arg
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1564G>A
  hgvsp: ENSP00000304845.5:p.Gly522Arg
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1567G>A
  hgvsp: ENSP00000362513.3:p.Gly523Arg
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly523Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-234681170-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681170
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681170
    reference: chr 2
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1570C>A
  hgvsp: ENST00000608381.1:c.1570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1558C>A
  hgvsp: ENST00000354728.4:c.1558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1558C>A
  hgvsp: ENST00000373450.4:c.1558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.763C>A
  hgvsp: ENST00000373424.1:c.763C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1570C>A
  hgvsp: ENST00000373414.3:c.1570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*366C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1564C>A
  hgvsp: ENST00000305139.6:c.1564C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1570C>A
  hgvsp: ENST00000482026.1:c.1570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1558C>A
  hgvsp: ENST00000609637.1:c.1558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1570C>A
  hgvsp: ENST00000609767.1:c.1570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1570C>A
  hgvsp: ENST00000373409.3:c.1570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1558C>A
  hgvsp: ENST00000344644.5:c.1558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1567C>A
  hgvsp: ENST00000608383.1:c.1567C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1567C>A
  hgvsp: ENST00000305208.5:c.1567C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1558C>A
  hgvsp: ENST00000373426.3:c.1558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg524Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

2-234681170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681170
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681170
    reference: chr 2
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*366C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1570C>T
  hgvsp: ENSP00000477394.1:p.Arg524Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1567C>T
  hgvsp: ENSP00000304845.5:p.Arg523Ter
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1570C>T
  hgvsp: ENSP00000418532.1:p.Arg524Ter
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1570C>T
  hgvsp: ENSP00000362513.3:p.Arg524Ter
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1564C>T
  hgvsp: ENSP00000303174.6:p.Arg522Ter
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1558C>T
  hgvsp: ENSP00000362525.3:p.Arg520Ter
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1570C>T
  hgvsp: ENSP00000476805.1:p.Arg524Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1570C>T
  hgvsp: ENSP00000362508.3:p.Arg524Ter
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1567C>T
  hgvsp: ENSP00000476741.1:p.Arg523Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1558C>T
  hgvsp: ENSP00000346768.4:p.Arg520Ter
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1558C>T
  hgvsp: ENSP00000343838.5:p.Arg520Ter
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1558C>T
  hgvsp: ENSP00000476286.1:p.Arg520Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.763C>T
  hgvsp: ENSP00000362523.1:p.Arg255Ter
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1558C>T
  hgvsp: ENSP00000362549.4:p.Arg520Ter
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg524Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-234681171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681171
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681171
    reference: chr 2
allele count: 8
allele frequency: 6.674342160150841e-5
allele num: 119862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1559G>A
  hgvsp: ENSP00000476286.1:p.Arg520Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1571G>A
  hgvsp: ENSP00000476805.1:p.Arg524Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.764G>A
  hgvsp: ENSP00000362523.1:p.Arg255Gln
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1571G>A
  hgvsp: ENSP00000362508.3:p.Arg524Gln
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1559G>A
  hgvsp: ENSP00000362525.3:p.Arg520Gln
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1565G>A
  hgvsp: ENSP00000303174.6:p.Arg522Gln
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1559G>A
  hgvsp: ENSP00000346768.4:p.Arg520Gln
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1571G>A
  hgvsp: ENSP00000477394.1:p.Arg524Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1559G>A
  hgvsp: ENSP00000343838.5:p.Arg520Gln
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1571G>A
  hgvsp: ENSP00000362513.3:p.Arg524Gln
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1559G>A
  hgvsp: ENSP00000362549.4:p.Arg520Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1568G>A
  hgvsp: ENSP00000476741.1:p.Arg523Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1568G>A
  hgvsp: ENSP00000304845.5:p.Arg523Gln
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*367G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1571G>A
  hgvsp: ENSP00000418532.1:p.Arg524Gln
  variant of: http://identifiers.org/hgnc/12535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg524Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-234681173-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681173
    reference: chr 2
allele count: 1
allele frequency: 8.364141253617491e-6
allele num: 119558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1561G>C
  hgvsp: ENSP00000476286.1:p.Val521Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1570G>C
  hgvsp: ENSP00000476741.1:p.Val524Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1567G>C
  hgvsp: ENSP00000303174.6:p.Val523Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1573G>C
  hgvsp: ENSP00000418532.1:p.Val525Leu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.766G>C
  hgvsp: ENSP00000362523.1:p.Val256Leu
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1573G>C
  hgvsp: ENSP00000362508.3:p.Val525Leu
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1561G>C
  hgvsp: ENSP00000343838.5:p.Val521Leu
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1561G>C
  hgvsp: ENSP00000362549.4:p.Val521Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1561G>C
  hgvsp: ENSP00000346768.4:p.Val521Leu
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1561G>C
  hgvsp: ENSP00000362525.3:p.Val521Leu
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1570G>C
  hgvsp: ENSP00000304845.5:p.Val524Leu
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1573G>C
  hgvsp: ENSP00000477394.1:p.Val525Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1573G>C
  hgvsp: ENSP00000362513.3:p.Val525Leu
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1573G>C
  hgvsp: ENSP00000476805.1:p.Val525Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*369G>C
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val525Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-234681184-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681184
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681184
    reference: chr 2
allele count: 2
allele frequency: 1.712651355563548e-5
allele num: 116778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.777C>A
  hgvsp: ENST00000373424.1:c.777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1584C>A
  hgvsp: ENST00000373414.3:c.1584C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1584C>A
  hgvsp: ENST00000373409.3:c.1584C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1572C>A
  hgvsp: ENST00000354728.4:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1584C>A
  hgvsp: ENST00000608381.1:c.1584C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1572C>A
  hgvsp: ENST00000609637.1:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1578C>A
  hgvsp: ENST00000305139.6:c.1578C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1581C>A
  hgvsp: ENST00000608383.1:c.1581C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1572C>A
  hgvsp: ENST00000373426.3:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1572C>A
  hgvsp: ENST00000373450.4:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1584C>A
  hgvsp: ENST00000482026.1:c.1584C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1581C>A
  hgvsp: ENST00000305208.5:c.1581C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1584C>A
  hgvsp: ENST00000609767.1:c.1584C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*380C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1572C>A
  hgvsp: ENST00000344644.5:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15051
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala528Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

2-234681196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681196
    reference: chr 2
allele count: 6
allele frequency: 5.420935653493793e-5
allele num: 110682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1584G>A
  hgvsp: ENST00000609637.1:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1584G>A
  hgvsp: ENST00000354728.4:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1590G>A
  hgvsp: ENST00000305139.6:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1584G>A
  hgvsp: ENST00000373450.4:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1596G>A
  hgvsp: ENST00000373409.3:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1584G>A
  hgvsp: ENST00000344644.5:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.789G>A
  hgvsp: ENST00000373424.1:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1596G>A
  hgvsp: ENST00000482026.1:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1596G>A
  hgvsp: ENST00000608381.1:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*392G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1596G>A
  hgvsp: ENST00000609767.1:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1593G>A
  hgvsp: ENST00000305208.5:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1596G>A
  hgvsp: ENST00000373414.3:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1593G>A
  hgvsp: ENST00000608383.1:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1584G>A
  hgvsp: ENST00000373426.3:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys532Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-234681200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681200
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681200
    reference: chr 2
allele count: 1
allele frequency: 9.177679882525697e-6
allele num: 108960
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.1600C>T
  hgvsp: ENSP00000476805.1:p.His534Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.1588C>T
  hgvsp: ENSP00000343838.5:p.His530Tyr
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.1594C>T
  hgvsp: ENSP00000303174.6:p.His532Tyr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.1600C>T
  hgvsp: ENSP00000418532.1:p.His534Tyr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476741
  ensembl transcript: ENST00000608383
  gene symbol: UGT1A8
  hgvsc: ENST00000608383.1:c.1597C>T
  hgvsp: ENSP00000476741.1:p.His533Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.1588C>T
  hgvsp: ENSP00000476286.1:p.His530Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.1597C>T
  hgvsp: ENSP00000304845.5:p.His533Tyr
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.1600C>T
  hgvsp: ENSP00000477394.1:p.His534Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.1600C>T
  hgvsp: ENSP00000362508.3:p.His534Tyr
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.1588C>T
  hgvsp: ENSP00000362525.3:p.His530Tyr
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.1600C>T
  hgvsp: ENSP00000362513.3:p.His534Tyr
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.793C>T
  hgvsp: ENSP00000362523.1:p.His265Tyr
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.1588C>T
  hgvsp: ENSP00000346768.4:p.His530Tyr
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.1588C>T
  hgvsp: ENSP00000362549.4:p.His530Tyr
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His534Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-234681206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681206
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681206
    reference: chr 2
allele count: 1
allele frequency: 9.750770310854557e-6
allele num: 102556
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.*1G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.*1G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.*1G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.*1G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.*1G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.*1G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*402G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.*1G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.*1G>A
  variant of: http://identifiers.org/hgnc/12530
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-234681213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681213
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681213
    reference: chr 2
allele count: 1
allele frequency: 1.037624255504597e-5
allele num: 96374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.*8G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.*8G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.*8G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.*8G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*409G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.*8G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.*8G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.*8G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.*8G>A
  variant of: http://identifiers.org/hgnc/12530
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

2-234681232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681232
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681232
    reference: chr 2
allele count: 1
allele frequency: 1.219274287943816e-5
allele num: 82016
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.*27T>C
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.*27T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.*27T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.*27T>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.*27T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.*27T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.*27T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.*27T>C
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.*27T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*428T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.*27T>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.*27T>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.*27T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.*27T>C
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-234681234-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681234
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681233
    reference: chr 2
allele count: 1
allele frequency: 1.230920728705071e-5
allele num: 81240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.*30delG
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.*30delG
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.*30delG
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.*30delG
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.*30delG
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.*30delG
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.*30delG
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*431delG
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.*30delG
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.*30delG
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.*30delG
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.*30delG
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.*30delG
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.*30delG
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: TG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

2-234681248-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681248
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681248
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 68276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.*43G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.*43G>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.*43G>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.*43G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.*43G>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.*43G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.*43G>C
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.*43G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*444G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.*43G>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.*43G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.*43G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.*43G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.*43G>C
  variant of: http://identifiers.org/hgnc/12530
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20322
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

2-234681252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234681252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234681252
    reference: chr 2
allele count: 5
allele frequency: 7.741855567942524e-5
allele num: 64584
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.*47T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.*47T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.*448T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.*47T>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.*47T>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.*47T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.*47T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242366
  ensembl protein: ENSP00000304845
  ensembl transcript: ENST00000305208
  gene symbol: UGT1A1
  hgvsc: ENST00000305208.5:c.*47T>C
  variant of: http://identifiers.org/hgnc/12530
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.*47T>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21860
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16447
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-234687960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234687960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234687960
    reference: chr 2
allele count: 5
allele frequency: 3.046180090166931e-4
allele num: 16414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.-14-31C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-357C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.-14-31C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.-12-33C>T
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-234687963-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234687963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234687963
    reference: chr 2
allele count: 200
allele frequency: 1.214771622934888e-2
allele num: 16464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-354A>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.-14-28A>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.-14-28A>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.-12-30A>C
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-234687990-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234687990
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234687990
    reference: chr 2
allele count: 9
allele frequency: 5.428881650380022e-4
allele num: 16578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.-12-3G>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.-14-1G>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.-14-1G>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-327G>C
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: c.-14-1G>C
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-234688021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688021
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 16718
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.17C>T
  hgvsp: ENSP00000374408.3:p.Thr6Ile
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.17C>T
  hgvsp: ENSP00000404614.1:p.Thr6Ile
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.17C>T
  hgvsp: ENSP00000392128.1:p.Thr6Ile
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-296C>T
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr6Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS

2-234688029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688029
    reference: chr 2
allele count: 1
allele frequency: 5.976571838393497e-5
allele num: 16732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.25G>A
  hgvsp: ENSP00000392128.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.25G>A
  hgvsp: ENSP00000374408.3:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.25G>A
  hgvsp: ENSP00000404614.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-288G>A
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala9Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-234688036-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688036
    reference: chr 2
allele count: 13866
allele frequency: 8.072892408011179e-1
allele num: 17176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.32C>A
  hgvsp: ENSP00000374408.3:p.Ala11Asp
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.32C>A
  hgvsp: ENSP00000392128.1:p.Ala11Asp
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.32C>A
  hgvsp: ENSP00000404614.1:p.Ala11Asp
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-281C>A
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.25e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 9.75e1
  variant carriers: 3143
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 526
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 536
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.25e1
  variant carriers: 506
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.75e1
  variant carriers: 556
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 540
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.5e0
  variant carriers: 261
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 226
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 11
hgvs: p.Ala11Asp
num of homozygotes: 5634
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-234688060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688060
    reference: chr 2
allele count: 1
allele frequency: 5.988023952095808e-5
allele num: 16700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-257A>G
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.56A>G
  hgvsp: ENSP00000374408.3:p.Glu19Gly
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.56A>G
  hgvsp: ENSP00000404614.1:p.Glu19Gly
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.56A>G
  hgvsp: ENSP00000392128.1:p.Glu19Gly
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu19Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-234688070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688070
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688070
    reference: chr 2
allele count: 1
allele frequency: 6.022645145748013e-5
allele num: 16604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-247C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.66C>T
  hgvsp: ENST00000428446.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.66C>T
  hgvsp: ENST00000389758.3:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.66C>T
  hgvsp: ENST00000430892.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp22Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-234688106-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688106
    reference: chr 2
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.94+8T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.94+8T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.94+8T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-211T>C
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 460
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 964
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 6.25e1
  variant carriers: 0
hgvs: c.94+8T>C
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

2-234688269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688269
    reference: chr 2
allele count: 1
allele frequency: 6.725854183481302e-5
allele num: 14868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.95-48T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-48T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.95-48T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.95-48T>C
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

2-234688275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688275
    reference: chr 2
allele count: 19
allele frequency: 1.278944534194938e-3
allele num: 14856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.95-42G>A
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-42G>A
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.95-42G>A
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.95-42G>A
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2474
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-234688294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688294
    reference: chr 2
allele count: 1
allele frequency: 6.461617989144482e-5
allele num: 15476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.95-23C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.95-23C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-23C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.95-23C>T
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

2-234688302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688302
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688302
    reference: chr 2
allele count: 3
allele frequency: 1.884895702437798e-4
allele num: 15916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.95-15C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-15C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.95-15C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.95-15C>T
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-234688303-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688303
    reference: chr 2
allele count: 10
allele frequency: 6.200396825396825e-4
allele num: 16128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.95-14G>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.95-14G>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-14G>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.95-14G>C
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-234688303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688303
    reference: chr 2
allele count: 1
allele frequency: 6.200396825396825e-5
allele num: 16128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.95-14G>A
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.95-14G>A
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-14G>A
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.95-14G>A
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

2-234688312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688312
    reference: chr 2
allele count: 1
allele frequency: 5.998080614203455e-5
allele num: 16672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-83-5C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.95-5C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.95-5C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.95-5C>T
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
hgvs: c.95-5C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-234688327-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688327
    reference: chr 2
allele count: 396
allele frequency: 2.265187049536666e-2
allele num: 17482
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.105A>G
  hgvsp: ENST00000389758.3:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.105A>G
  hgvsp: ENST00000430892.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-73A>G
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185038
  ensembl transcript: ENST00000480634
  gene symbol: MROH2A
  hgvsc: ENST00000480634.2:n.11A>G
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.105A>G
  hgvsp: ENST00000428446.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.75e1
  variant carriers: 3
hgvs: p.Gln35Gln
num of homozygotes: 8
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-234688342-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688342
    reference: chr 2
allele count: 44
allele frequency: 2.48335026526696e-3
allele num: 17718
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.120T>C
  hgvsp: ENST00000389758.3:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.120T>C
  hgvsp: ENST00000430892.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-58T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185038
  ensembl transcript: ENST00000480634
  gene symbol: MROH2A
  hgvsc: ENST00000480634.2:n.26T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.120T>C
  hgvsp: ENST00000428446.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu40Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-234688353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688353
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688353
    reference: chr 2
allele count: 24
allele frequency: 1.350286935973895e-3
allele num: 17774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.131T>C
  hgvsp: ENSP00000404614.1:p.Ile44Thr
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-47T>C
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.131T>C
  hgvsp: ENSP00000392128.1:p.Ile44Thr
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.131T>C
  hgvsp: ENSP00000374408.3:p.Ile44Thr
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185038
  ensembl transcript: ENST00000480634
  gene symbol: MROH2A
  hgvsc: ENST00000480634.2:n.37T>C
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile44Thr
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-234688360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234688360
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234688360
    reference: chr 2
allele count: 96
allele frequency: 5.406014190787251e-3
allele num: 17758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000374408
  ensembl transcript: ENST00000389758
  gene symbol: MROH2A
  hgvsc: ENST00000389758.3:c.138C>T
  hgvsp: ENST00000389758.3:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185038
  ensembl transcript: ENST00000480634
  gene symbol: MROH2A
  hgvsc: ENST00000480634.2:n.44C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000404614
  ensembl transcript: ENST00000428446
  gene symbol: MROH2A
  hgvsc: ENST00000428446.1:c.138C>T
  hgvsp: ENST00000428446.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000409355
  ensembl transcript: ENST00000454283
  gene symbol: MROH2A
  hgvsc: ENST00000454283.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/27936
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185038
  ensembl protein: ENSP00000392128
  ensembl transcript: ENST00000430892
  gene symbol: MROH2A
  hgvsc: ENST00000430892.1:c.138C>T
  hgvsp: ENST00000430892.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27936
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ser46Ser
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

GenotypeDepth
all individuals: 854
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3230
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 879
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15591
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 944
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 948
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6129
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.375e1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

DP
type: SiteQuality
SIO_000300: 1.694904e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

GenotypeDepth
all individuals: 3230
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 948
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 879
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15591
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6129
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.694904e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeDepth
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 944
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34350
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 948
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6129
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.694938e6

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

QD
type: SiteQuality
SIO_000300: 1.181e1

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

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

GenotypeDepth
all individuals: 880
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 945
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34354
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 854
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6128
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 1.694726e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

FS
type: SiteQuality
SIO_000300: 4.113e0

QD
type: SiteQuality
SIO_000300: 1.607e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeDepth
all individuals: 932
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34357
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 319
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 686
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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East Asian
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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allele num: 8654
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European (Non-Finnish)
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South Asian
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Latino
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African
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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MQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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Other
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African
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QD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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Latino
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East Asian
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African
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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South Asian
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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QD
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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FS
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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Latino
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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East Asian
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Latino
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DP
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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DP
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Latino
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Other
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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East Asian
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European (Non-Finnish)
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeQuality
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Other
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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MQRankSum
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DP
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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East Asian
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South Asian
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DP
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ReadPosRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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European (Finnish)
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European (Non-Finnish)
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South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.695246e6

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.834e0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.108e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.695115e6

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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MQ
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BaseQRankSum
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SIO_000300: 8.78e-1

MQRankSum
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SIO_000300: -6.0e-1

ClippingRankSum
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SIO_000300: -2.553e0

FS
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SIO_000300: 6.696e0

VQSLOD
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SIO_000300: 1.29e0

ReadPosRankSum
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SIO_000300: -1.401e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.225e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
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SIO_000300: -3.987e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 1.695989e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 4.0e-4

ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.972e1

FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.92e-1

QD
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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African
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European (Finnish)
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East Asian
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DP
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
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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: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
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ClippingRankSum
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SIO_000300: -8.35e-1

QD
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SIO_000300: 9.109999999999999e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.972e1

FS
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SIO_000300: 5.24e-1

BaseQRankSum
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SIO_000300: -3.876e0

DP
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ReadPosRankSum
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SIO_000300: 1.03e0

GenotypeDepth
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variant carriers: 37

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

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

Other
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allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
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 count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
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: 34
allele frequency: 5.144188579901353e-4
allele num: 66094
num of homozygotes: 0

African
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allele count: 5
allele frequency: 4.873294346978557e-4
allele num: 10260
num of homozygotes: 0

VQSLOD
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SIO_000300: -3.305e2

FS
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SIO_000300: 2.64355e2

ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.614e0

InbreedingCoeff
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SIO_000300: -4.4e-3

DP
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SIO_000300: 1.73763e6

MQ
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SIO_000300: 5.968e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

VQSLOD
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SIO_000300: -3.832e0

InbreedingCoeff
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MQ
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SIO_000300: 5.945e1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.3195e1

MQRankSum
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QD
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DP
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SIO_000300: 1.696391e6

BaseQRankSum
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SIO_000300: -1.733e0

ClippingRankSum
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SIO_000300: 9.07e-1

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

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

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

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
allele frequency: 0.0e0
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QD
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SIO_000300: 7.32e0

FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.501395432584101e-5
allele num: 66646
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South Asian
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African
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MQRankSum
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FS
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QD
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66464
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East Asian
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Latino
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Other
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African
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European (Finnish)
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South Asian
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

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

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

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

InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.73e-1

DP
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SIO_000300: 1.683111e6

MQ
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SIO_000300: 5.876e1

MQRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65952
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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QD
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MQ
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SIO_000300: 5.938e1

DP
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SIO_000300: 1.678075e6

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 65952
num of homozygotes: 0

Other
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allele count: 0
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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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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 5.089e0

MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
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DP
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SIO_000300: 1.678075e6

BaseQRankSum
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SIO_000300: 4.15e0

QD
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SIO_000300: 9.539999999999999e0

ClippingRankSum
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SIO_000300: -7.82e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

African
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South Asian
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allele num: 16388
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

Other
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East Asian
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65710
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

African
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
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allele count: 6
allele frequency: 9.874267658481996e-5
allele num: 60764
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

Other
type: Population
allele count: 0
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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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

BaseQRankSum
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SIO_000300: -1.061e0

MQ
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SIO_000300: 6.0e1

VQSLOD
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InbreedingCoeff
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SIO_000300: -1.2e-3

QD
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DP
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FS
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MQRankSum
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SIO_000300: -7.099999999999999e-2

ClippingRankSum
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SIO_000300: 5.4e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.524008350730688e-5
allele num: 15328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59788
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

MQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

InbreedingCoeff
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SIO_000300: -1.5e-3

FS
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SIO_000300: 1.2707e1

QD
type: SiteQuality
SIO_000300: 1.59e1

MQ
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SIO_000300: 6.0e1

DP
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ReadPosRankSum
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SIO_000300: -6.0e-2

ClippingRankSum
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SIO_000300: -1.09e0

VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.756756756756757e-5
allele num: 14800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56116
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.397e0

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -4.91e-2

ReadPosRankSum
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SIO_000300: 1.99e0

QD
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SIO_000300: 8.91e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 1.398662e6

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.902949571836346e-5
allele num: 52550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -1.09e0

QD
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SIO_000300: 3.81e0

ClippingRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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SIO_000300: 5.963e1

VQSLOD
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SIO_000300: -2.684e0

MQRankSum
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SIO_000300: 1.3e-1

BaseQRankSum
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SIO_000300: -4.67e0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Other
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43814
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 7.702973347712218e-5
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Other
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European (Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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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 count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 9.76534e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.936e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

QD
type: SiteQuality
SIO_000300: 1.065e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.572e1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.672597864768683e-4
allele num: 4496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.804167392187591e-5
allele num: 34458
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 9.65362e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 200
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
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European (Finnish)
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allele count: 1
allele frequency: 6.188118811881188e-4
allele num: 1616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.524454477050414e-4
allele num: 5316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

QD
type: SiteQuality
SIO_000300: 1.844e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.24638e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 135
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GenotypeQuality
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bin: 9.75e1
variant carriers: 202

Other
type: Population
allele count: 1
allele frequency: 4.950495049504951e-3
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 1.048296518157993e-2
allele num: 5342
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 1.027397260273973e-2
allele num: 292
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South Asian
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allele count: 66
allele frequency: 8.677359978963977e-3
allele num: 7606
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East Asian
type: Population
allele count: 2
allele frequency: 4.132231404958678e-3
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 1.050679851668727e-2
allele num: 1618
num of homozygotes: 0

African
type: Population
allele count: 55
allele frequency: 5.978260869565218e-2
allele num: 920
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.4e1

DP
type: SiteQuality
SIO_000300: 3.28603e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

VQSLOD
type: SiteQuality
SIO_000300: 6.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.658008658008658e-3
allele num: 924
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
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VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.439e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

DP
type: SiteQuality
SIO_000300: 3.37403e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
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MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 6.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

DP
type: SiteQuality
SIO_000300: 3.41654e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 684
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.063829787234043e-3
allele num: 940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
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QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 3.42097e5

VQSLOD
type: SiteQuality
SIO_000300: -9.01e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.173e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.619e0

GenotypeQuality
all individuals: 42
bin: 8.25e1
variant carriers: 15

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7967

GenotypeQuality
all individuals: 124
bin: 6.25e1
variant carriers: 27

European (Non-Finnish)
type: Population
allele count: 4423
allele frequency: 7.586620926243568e-1
allele num: 5830
num of homozygotes: 1691

African
type: Population
allele count: 890
allele frequency: 8.557692307692307e-1
allele num: 1040
num of homozygotes: 377

European (Finnish)
type: Population
allele count: 1479
allele frequency: 8.996350364963503e-1
allele num: 1644
num of homozygotes: 663

East Asian
type: Population
allele count: 406
allele frequency: 8.353909465020576e-1
allele num: 486
num of homozygotes: 174

Latino
type: Population
allele count: 241
allele frequency: 8.141891891891891e-1
allele num: 296
num of homozygotes: 94

Other
type: Population
allele count: 178
allele frequency: 8.317757009345794e-1
allele num: 214
num of homozygotes: 73

South Asian
type: Population
allele count: 6249
allele frequency: 8.151578398121576e-1
allele num: 7666
num of homozygotes: 2562

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.391e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.955e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.42678e5

QD
type: SiteQuality
SIO_000300: 2.502e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 3026
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variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

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

African
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 3.73869e5

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.323e0

QD
type: SiteQuality
SIO_000300: 1.001e1

FS
type: SiteQuality
SIO_000300: 8.782999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 577
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GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.848428835489834e-4
allele num: 5410
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 7666
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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ClippingRankSum
type: SiteQuality
SIO_000300: -2.032e0

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.862e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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Other
type: Population
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allele num: 206
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East Asian
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South Asian
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allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

African
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: 5332
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 6.9e0

DP
type: SiteQuality
SIO_000300: 3.71423e5

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.808e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
all individuals: 261
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GenotypeQuality
all individuals: 1001
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.310986964618249e-4
allele num: 1074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0648e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

DP
type: SiteQuality
SIO_000300: 1.90237e5

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

GenotypeQuality
all individuals: 214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 8.474576271186441e-3
allele num: 1652
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.098901098901099e-2
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.504587155963303e-4
allele num: 5450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

DP
type: SiteQuality
SIO_000300: 1.91296e5

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.464e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e0

GenotypeQuality
all individuals: 3415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.619695497246518e-4
allele num: 6174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 2.0396e5

QD
type: SiteQuality
SIO_000300: 1.754e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759324419422942e-4
allele num: 5684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.124087591240876e-4
allele num: 1096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.472222222222222e-3
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.045e0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

FS
type: SiteQuality
SIO_000300: 2.919e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.384e0

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 2.1368e5

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.500600240096038e-3
allele num: 6664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.257e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 2.17163e5

FS
type: SiteQuality
SIO_000300: 6.176e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

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

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4626
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.742767514813524e-4
allele num: 5738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

QD
type: SiteQuality
SIO_000300: 1.257e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

DP
type: SiteQuality
SIO_000300: 2.17163e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 6.176e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.422070534698521e-4
allele num: 7032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

DP
type: SiteQuality
SIO_000300: 2.27867e5

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.304e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

GenotypeQuality
all individuals: 745
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6098
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.75e1
variant carriers: 384

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 3

Other
type: Population
allele count: 4
allele frequency: 1.851851851851852e-2
allele num: 216
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 1.923076923076923e-2
allele num: 312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 134
allele frequency: 2.193844138834316e-2
allele num: 6108
num of homozygotes: 0

South Asian
type: Population
allele count: 68
allele frequency: 9.047365620010643e-3
allele num: 7516
num of homozygotes: 0

African
type: Population
allele count: 123
allele frequency: 1.067708333333333e-1
allele num: 1152
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 61
allele frequency: 3.613744075829384e-2
allele num: 1688
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

DP
type: SiteQuality
SIO_000300: 2.46981e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.75e1
variant carriers: 45

Latino
type: Population
allele count: 1
allele frequency: 3.184713375796179e-3
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 41
allele frequency: 3.546712802768166e-2
allele num: 1156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.223726627981947e-4
allele num: 6204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 2.37759e5

QD
type: SiteQuality
SIO_000300: 1.255e1

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6580
bin: 6.25e1
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GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 3.001827199164709e-3
allele num: 7662
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602050624799744e-4
allele num: 6242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.485e1

DP
type: SiteQuality
SIO_000300: 2.37225e5

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

FS
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.75e1
variant carriers: 95

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 857
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6554
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 2.369668246445498e-3
allele num: 1688
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 9.433962264150943e-3
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 67
allele frequency: 8.742171189979123e-3
allele num: 7664
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.688261706221937e-3
allele num: 6236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1