11-102999606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999606
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999606
    reference: chr 11
allele count: 22
allele frequency: 2.261978202755501e-4
allele num: 97260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1858-33T>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1858-33T>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1858-33T>G
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28184
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 9.75e1
  variant carriers: 21
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

11-102999615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999615
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999615
    reference: chr 11
allele count: 6
allele frequency: 5.385222948230057e-5
allele num: 111416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1858-24A>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1858-24A>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1858-24A>G
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

11-102999660-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999660
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999660
    reference: chr 11
allele count: 10
allele frequency: 8.320990530712776e-5
allele num: 120178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1879A>G
  hgvsp: ENSP00000334021.7:p.Ile627Val
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1879A>G
  hgvsp: ENSP00000381167.3:p.Ile627Val
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1879A>G
  hgvsp: ENSP00000364887.2:p.Ile627Val
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Ile627Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

11-102999670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999670
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999670
    reference: chr 11
allele count: 2
allele frequency: 1.66245511371193e-5
allele num: 120304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1889A>G
  hgvsp: ENSP00000364887.2:p.Gln630Arg
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1889A>G
  hgvsp: ENSP00000334021.7:p.Gln630Arg
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1889A>G
  hgvsp: ENSP00000381167.3:p.Gln630Arg
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46623
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln630Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

11-102999681-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999681
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999681
    reference: chr 11
allele count: 2
allele frequency: 1.661543573980228e-5
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1900A>T
  hgvsp: ENSP00000381167.3:p.Ser634Cys
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1900A>T
  hgvsp: ENSP00000334021.7:p.Ser634Cys
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1900A>T
  hgvsp: ENSP00000364887.2:p.Ser634Cys
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser634Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

11-102999689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999689
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999689
    reference: chr 11
allele count: 5
allele frequency: 4.153513872736335e-5
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1908G>A
  hgvsp: ENST00000334267.7:c.1908G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1908G>A
  hgvsp: ENST00000375735.2:c.1908G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1908G>A
  hgvsp: ENST00000398093.3:c.1908G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46672
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg636Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

11-102999697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999697
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999697
    reference: chr 11
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1916T>C
  hgvsp: ENSP00000381167.3:p.Met639Thr
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1916T>C
  hgvsp: ENSP00000364887.2:p.Met639Thr
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1916T>C
  hgvsp: ENSP00000334021.7:p.Met639Thr
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met639Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-102999699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999699
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999699
    reference: chr 11
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1918T>C
  hgvsp: ENST00000398093.3:c.1918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1918T>C
  hgvsp: ENST00000334267.7:c.1918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1918T>C
  hgvsp: ENST00000375735.2:c.1918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu640Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-102999715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999715
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999715
    reference: chr 11
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1934C>T
  hgvsp: ENSP00000381167.3:p.Ala645Val
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1934C>T
  hgvsp: ENSP00000334021.7:p.Ala645Val
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1934C>T
  hgvsp: ENSP00000364887.2:p.Ala645Val
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46437
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala645Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

11-102999716-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999716
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999716
    reference: chr 11
allele count: 2
allele frequency: 1.664585934248856e-5
allele num: 120150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1935A>T
  hgvsp: ENST00000398093.3:c.1935A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1935A>T
  hgvsp: ENST00000375735.2:c.1935A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1935A>T
  hgvsp: ENST00000334267.7:c.1935A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala645Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

11-102999717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999717
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999717
    reference: chr 11
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1936T>C
  hgvsp: ENSP00000364887.2:p.Phe646Leu
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1936T>C
  hgvsp: ENSP00000381167.3:p.Phe646Leu
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1936T>C
  hgvsp: ENSP00000334021.7:p.Phe646Leu
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe646Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-102999725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999725
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999725
    reference: chr 11
allele count: 5
allele frequency: 4.169168167567207e-5
allele num: 119928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1944G>A
  hgvsp: ENST00000398093.3:c.1944G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1944G>A
  hgvsp: ENST00000375735.2:c.1944G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1944G>A
  hgvsp: ENST00000334267.7:c.1944G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln648Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

11-102999727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999727
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999727
    reference: chr 11
allele count: 4
allele frequency: 3.340403854826048e-5
allele num: 119746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1946T>C
  hgvsp: ENSP00000381167.3:p.Ile649Thr
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1946T>C
  hgvsp: ENSP00000364887.2:p.Ile649Thr
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1946T>C
  hgvsp: ENSP00000334021.7:p.Ile649Thr
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile649Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-102999741-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999741
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999741
    reference: chr 11
allele count: 1
allele frequency: 8.481188723411473e-6
allele num: 117908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1953+7G>T
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1953+7G>T
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1953+7G>T
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1953+7G>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

11-102999742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999742
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999742
    reference: chr 11
allele count: 2
allele frequency: 1.698686915014694e-5
allele num: 117738
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1953+8G>A
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1953+8G>A
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1953+8G>A
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 9.75e1
  variant carriers: 2
hgvs: c.1953+8G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

11-102999748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999748
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999748
    reference: chr 11
allele count: 73
allele frequency: 6.305170239596469e-4
allele num: 115778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1953+14T>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1953+14T>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1953+14T>C
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32339
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 9.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-102999754-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999754
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999753
    reference: chr 11
allele count: 1
allele frequency: 8.759942534776972e-6
allele num: 114156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1953+21delA
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1953+21delA
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1953+21delA
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: TA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

11-102999757-TATAATTAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999757
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999749
    reference: chr 11
allele count: 1
allele frequency: 8.792445530799936e-6
allele num: 113734
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 991
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 720
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 30641
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8920
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TATAATTAG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-102999764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999764
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999764
    reference: chr 11
allele count: 2
allele frequency: 1.774024729904735e-5
allele num: 112738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1953+30A>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1953+30A>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1953+30A>G
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4288
  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
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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: 25697
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

11-102999771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999771
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999771
    reference: chr 11
allele count: 1
allele frequency: 9.017783068210512e-6
allele num: 110892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1953+37A>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1953+37A>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1953+37A>G
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16374
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9965
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-102999778-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102999778
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 102999778
    reference: chr 11
allele count: 1
allele frequency: 9.18492936789316e-6
allele num: 108874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1953+44A>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1953+44A>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1953+44A>C
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

11-103004243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004243
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004243
    reference: chr 11
allele count: 1
allele frequency: 8.537959769133568e-6
allele num: 117124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-41G>A
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-41G>A
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-41G>A
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-103004250-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004250
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004250
    reference: chr 11
allele count: 1
allele frequency: 8.501377223110144e-6
allele num: 117628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-34T>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-34T>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-34T>G
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-103004253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004253
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004253
    reference: chr 11
allele count: 450
allele frequency: 3.815175922000848e-3
allele num: 117950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-31T>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-31T>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-31T>C
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 26558
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 19886
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 9.75e1
  variant carriers: 442
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 2
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-103004255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004255
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004255
    reference: chr 11
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-29C>T
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-29C>T
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-29C>T
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-103004265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004265
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004265
    reference: chr 11
allele count: 1
allele frequency: 8.389684044498884e-6
allele num: 119194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-19G>A
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-19G>A
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-19G>A
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46172
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-103004265-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004265
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004265
    reference: chr 11
allele count: 5
allele frequency: 4.194842022249442e-5
allele num: 119194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-19G>T
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-19G>T
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-19G>T
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20731
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-103004270-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004270
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004270
    reference: chr 11
allele count: 2
allele frequency: 1.673416111650323e-5
allele num: 119516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-14T>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-14T>G
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-14T>G
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

11-103004281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004281
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004281
    reference: chr 11
allele count: 4
allele frequency: 3.332167074857133e-5
allele num: 120042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1954-3T>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1954-3T>C
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1954-3T>C
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29673
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1954-3T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

11-103004296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004296
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004296
    reference: chr 11
allele count: 15
allele frequency: 1.246882793017456e-4
allele num: 120300
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1966G>A
  hgvsp: ENSP00000381167.3:p.Gly656Arg
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1966G>A
  hgvsp: ENSP00000364887.2:p.Gly656Arg
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1966G>A
  hgvsp: ENSP00000334021.7:p.Gly656Arg
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21299
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 5931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly656Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-103004299-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004299
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004299
    reference: chr 11
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1969A>G
  hgvsp: ENSP00000334021.7:p.Ser657Gly
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1969A>G
  hgvsp: ENSP00000381167.3:p.Ser657Gly
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1969A>G
  hgvsp: ENSP00000364887.2:p.Ser657Gly
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser657Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

11-103004315-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004315
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004315
    reference: chr 11
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.1985A>G
  hgvsp: ENSP00000334021.7:p.Gln662Arg
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.1985A>G
  hgvsp: ENSP00000364887.2:p.Gln662Arg
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.1985A>G
  hgvsp: ENSP00000381167.3:p.Gln662Arg
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln662Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

11-103004335-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004335
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004335
    reference: chr 11
allele count: 38
allele frequency: 3.172323977760339e-4
allele num: 119786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2005A>G
  hgvsp: ENSP00000334021.7:p.Lys669Glu
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2005A>G
  hgvsp: ENSP00000364887.2:p.Lys669Glu
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2005A>G
  hgvsp: ENSP00000381167.3:p.Lys669Glu
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46561
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys669Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-103004338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004338
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004338
    reference: chr 11
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2008G>A
  hgvsp: ENSP00000334021.7:p.Glu670Lys
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2008G>A
  hgvsp: ENSP00000381167.3:p.Glu670Lys
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2008G>A
  hgvsp: ENSP00000364887.2:p.Glu670Lys
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu670Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

11-103004351-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004351
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004351
    reference: chr 11
allele count: 2
allele frequency: 1.687963134885134e-5
allele num: 118486
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2021A>G
  hgvsp: ENSP00000381167.3:p.Tyr674Cys
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2021A>G
  hgvsp: ENSP00000364887.2:p.Tyr674Cys
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2021A>G
  hgvsp: ENSP00000334021.7:p.Tyr674Cys
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44780
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr674Cys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

11-103004355-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004355
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004355
    reference: chr 11
allele count: 1
allele frequency: 8.511797351128664e-6
allele num: 117484
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2025C>G
  hgvsp: ENSP00000381167.3:p.Ile675Met
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2025C>G
  hgvsp: ENSP00000334021.7:p.Ile675Met
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2025C>G
  hgvsp: ENSP00000364887.2:p.Ile675Met
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21611
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 900
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile675Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-103004357-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004357
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004357
    reference: chr 11
allele count: 1
allele frequency: 8.515421428206482e-6
allele num: 117434
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2027A>C
  hgvsp: ENSP00000381167.3:p.Gln676Pro
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2027A>C
  hgvsp: ENSP00000334021.7:p.Gln676Pro
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2027A>C
  hgvsp: ENSP00000364887.2:p.Gln676Pro
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln676Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

11-103004380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004380
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004380
    reference: chr 11
allele count: 1
allele frequency: 9.056330374932077e-6
allele num: 110420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2050C>T
  hgvsp: ENSP00000381167.3:p.Arg684Trp
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2050C>T
  hgvsp: ENSP00000334021.7:p.Arg684Trp
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2050C>T
  hgvsp: ENSP00000364887.2:p.Arg684Trp
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36724
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg684Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

11-103004381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004381
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004381
    reference: chr 11
allele count: 1
allele frequency: 9.064703856125021e-6
allele num: 110318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2051G>A
  hgvsp: ENSP00000334021.7:p.Arg684Gln
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2051G>A
  hgvsp: ENSP00000364887.2:p.Arg684Gln
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2051G>A
  hgvsp: ENSP00000381167.3:p.Arg684Gln
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19670
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg684Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

11-103004404-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004404
    reference: chr 11
allele count: 1
allele frequency: 1.033399470899471e-5
allele num: 96768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2074C>G
  hgvsp: ENSP00000364887.2:p.Leu692Val
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2074C>G
  hgvsp: ENSP00000334021.7:p.Leu692Val
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2074C>G
  hgvsp: ENSP00000381167.3:p.Leu692Val
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu692Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

11-103004407-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103004407
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 103004407
    reference: chr 11
allele count: 1
allele frequency: 1.070893124866138e-5
allele num: 93380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000364887
  ensembl transcript: ENST00000375735
  gene symbol: DYNC2H1
  hgvsc: ENST00000375735.2:c.2077A>T
  hgvsp: ENSP00000364887.2:p.Arg693Ter
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000381167
  ensembl transcript: ENST00000398093
  gene symbol: DYNC2H1
  hgvsc: ENST00000398093.3:c.2077A>T
  hgvsp: ENSP00000381167.3:p.Arg693Ter
  variant of: http://identifiers.org/hgnc/2962
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187240
  ensembl protein: ENSP00000334021
  ensembl transcript: ENST00000334267
  gene symbol: DYNC2H1
  hgvsc: ENST00000334267.7:c.2077A>T
  hgvsp: ENSP00000334021.7:p.Arg693Ter
  variant of: http://identifiers.org/hgnc/2962
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg693Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

15-90768941-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768941
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768941
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 26068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1570G>C
  hgvsp: ENSP00000332204.6:p.Ala524Pro
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.123G>C
  hgvsp: ENSP00000454068.1:p.Ala42Pro
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1406G>C
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1570G>C
  hgvsp: ENSP00000394720.2:p.Ala524Pro
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1555G>C
  hgvsp: ENSP00000368417.3:p.Ala519Pro
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.302G>C
  hgvsp: ENSP00000453866.1:p.Ala102Pro
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.725G>C
  hgvsp: ENSP00000453804.1:p.Ala243Pro
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1771G>C
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28798
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala524Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

15-90768942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768942
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768942
    reference: chr 15
allele count: 331
allele frequency: 1.253882869914387e-2
allele num: 26398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.726C>T
  hgvsp: ENSP00000453804.1:p.Ala243Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1772C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.303C>T
  hgvsp: ENSP00000453866.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1571C>T
  hgvsp: ENSP00000394720.2:p.Ala524Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1571C>T
  hgvsp: ENSP00000332204.6:p.Ala524Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.124C>T
  hgvsp: ENSP00000454068.1:p.Ala42Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1407C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1556C>T
  hgvsp: ENSP00000368417.3:p.Ala519Val
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 1.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 28878
  bin: 7.5e0
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 6.25e1
  variant carriers: 21
hgvs: p.Ala524Val
num of homozygotes: 18
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

15-90768951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768951
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768951
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 27498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.735G>A
  hgvsp: ENSP00000453804.1:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1580G>A
  hgvsp: ENSP00000332204.6:p.Ser527Asn
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.133G>A
  hgvsp: ENSP00000454068.1:p.Ser45Asn
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1580G>A
  hgvsp: ENSP00000394720.2:p.Ser527Asn
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1565G>A
  hgvsp: ENSP00000368417.3:p.Ser522Asn
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.312G>A
  hgvsp: ENSP00000453866.1:p.Ser105Asn
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1416G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1781G>A
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24541
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser527Asn
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/15-90768953-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768953
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768953
    reference: chr 15
allele count: 1
allele frequency: 3.589375448671931e-5
allele num: 27860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.314C>A
  hgvsp: ENSP00000453866.1:p.Leu106Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1582C>A
  hgvsp: ENSP00000394720.2:p.Leu528Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.135C>A
  hgvsp: ENSP00000454068.1:p.Leu46Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1783C>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1567C>A
  hgvsp: ENSP00000368417.3:p.Leu523Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1582C>A
  hgvsp: ENSP00000332204.6:p.Leu528Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.737C>A
  hgvsp: ENSP00000453804.1:p.Leu247Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1418C>A
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu528Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

15-90768955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768955
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768955
    reference: chr 15
allele count: 1
allele frequency: 3.558465589637748e-5
allele num: 28102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.316G>A
  hgvsp: ENST00000559983.1:c.316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.137G>A
  hgvsp: ENST00000559247.1:c.137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1569G>A
  hgvsp: ENST00000379122.3:c.1569G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1584G>A
  hgvsp: ENST00000411539.2:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1584G>A
  hgvsp: ENST00000332496.6:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1785G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.739G>A
  hgvsp: ENST00000559074.1:c.739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1420G>A
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu528Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/15-90768959-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768959
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768959
    reference: chr 15
allele count: 15900
allele frequency: 4.014745985254015e-1
allele num: 39604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1588A>C
  hgvsp: ENST00000332496.6:c.1588A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.320A>C
  hgvsp: ENST00000559983.1:c.320A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1424A>C
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.743A>C
  hgvsp: ENST00000559074.1:c.743A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.141A>C
  hgvsp: ENST00000559247.1:c.141A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1588A>C
  hgvsp: ENST00000411539.2:c.1588A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1573A>C
  hgvsp: ENST00000379122.3:c.1573A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1789A>C
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 1.25e1
  variant carriers: 6584
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.5e0
  variant carriers: 1441
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 1757
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 28649
  bin: 7.5e0
  variant carriers: 9834
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 575
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 318
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 2.25e1
  variant carriers: 687
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 609
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 591
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 515
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 366
genotype quality: GenotypeQuality
  all individuals: 11776
  bin: 9.75e1
  variant carriers: 11619
genotype quality: GenotypeQuality
  all individuals: 15540
  bin: 2.25e1
  variant carriers: 1530
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.75e1
  variant carriers: 442
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 1.75e1
  variant carriers: 1585
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 232
hgvs: p.Arg530Arg
num of homozygotes: 2727
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

15-90768960-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768960
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768960
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 34620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.142G>T
  hgvsp: ENSP00000454068.1:p.Arg48Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.321G>T
  hgvsp: ENSP00000453866.1:p.Arg108Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1425G>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1589G>T
  hgvsp: ENSP00000394720.2:p.Arg530Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1574G>T
  hgvsp: ENSP00000368417.3:p.Arg525Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.744G>T
  hgvsp: ENSP00000453804.1:p.Arg249Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1589G>T
  hgvsp: ENSP00000332204.6:p.Arg530Met
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1790G>T
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30288
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg530Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

15-90768961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768961
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768961
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 34720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.745G>A
  hgvsp: ENST00000559074.1:c.745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.143G>A
  hgvsp: ENST00000559247.1:c.143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.322G>A
  hgvsp: ENST00000559983.1:c.322G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1590G>A
  hgvsp: ENST00000411539.2:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1791G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1590G>A
  hgvsp: ENST00000332496.6:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1426G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1575G>A
  hgvsp: ENST00000379122.3:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30371
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg530Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

15-90768976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768976
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768976
    reference: chr 15
allele count: 1
allele frequency: 2.96700688345597e-5
allele num: 33704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1605C>T
  hgvsp: ENST00000411539.2:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.158C>T
  hgvsp: ENST00000559247.1:c.158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1441C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1806C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.760C>T
  hgvsp: ENST00000559074.1:c.760C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1605C>T
  hgvsp: ENST00000332496.6:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.337C>T
  hgvsp: ENST00000559983.1:c.337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1590C>T
  hgvsp: ENST00000379122.3:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys535Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-90768982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768982
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768982
    reference: chr 15
allele count: 3
allele frequency: 9.036144578313253e-5
allele num: 33200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1611C>T
  hgvsp: ENST00000332496.6:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1596C>T
  hgvsp: ENST00000379122.3:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.164C>T
  hgvsp: ENST00000559247.1:c.164C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1812C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.343C>T
  hgvsp: ENST00000559983.1:c.343C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.766C>T
  hgvsp: ENST00000559074.1:c.766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1611C>T
  hgvsp: ENST00000411539.2:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1447C>T
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32620
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu537Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-90768983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768983
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768983
    reference: chr 15
allele count: 2
allele frequency: 6.008532115604158e-5
allele num: 33286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.165G>A
  hgvsp: ENSP00000454068.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1597G>A
  hgvsp: ENSP00000368417.3:p.Ala533Thr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.344G>A
  hgvsp: ENSP00000453866.1:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1448G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1813G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1612G>A
  hgvsp: ENSP00000332204.6:p.Ala538Thr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.767G>A
  hgvsp: ENSP00000453804.1:p.Ala257Thr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1612G>A
  hgvsp: ENSP00000394720.2:p.Ala538Thr
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32784
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala538Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

15-90768983-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768983
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768983
    reference: chr 15
allele count: 1
allele frequency: 3.004266057802079e-5
allele num: 33286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.344G>T
  hgvsp: ENSP00000453866.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1612G>T
  hgvsp: ENSP00000394720.2:p.Ala538Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.165G>T
  hgvsp: ENSP00000454068.1:p.Ala56Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.767G>T
  hgvsp: ENSP00000453804.1:p.Ala257Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1597G>T
  hgvsp: ENSP00000368417.3:p.Ala533Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1448G>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1612G>T
  hgvsp: ENSP00000332204.6:p.Ala538Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1813G>T
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala538Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-90768986-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768986
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768986
    reference: chr 15
allele count: 1
allele frequency: 3.022974607013301e-5
allele num: 33080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1600C>G
  hgvsp: ENSP00000368417.3:p.Arg534Gly
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1615C>G
  hgvsp: ENSP00000394720.2:p.Arg539Gly
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.770C>G
  hgvsp: ENSP00000453804.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.168C>G
  hgvsp: ENSP00000454068.1:p.Arg57Gly
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.347C>G
  hgvsp: ENSP00000453866.1:p.Arg117Gly
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1816C>G
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1615C>G
  hgvsp: ENSP00000332204.6:p.Arg539Gly
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1451C>G
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9664
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg539Gly
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: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

15-90768988-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90768988
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90768988
    reference: chr 15
allele count: 1
allele frequency: 2.980448259418216e-5
allele num: 33552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.772G>C
  hgvsp: ENST00000559074.1:c.772G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.170G>C
  hgvsp: ENST00000559247.1:c.170G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1453G>C
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.349G>C
  hgvsp: ENST00000559983.1:c.349G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1617G>C
  hgvsp: ENST00000332496.6:c.1617G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1602G>C
  hgvsp: ENST00000379122.3:c.1602G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1617G>C
  hgvsp: ENST00000411539.2:c.1617G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1818G>C
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33531
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg539Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-90769002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769002
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769002
    reference: chr 15
allele count: 2
allele frequency: 6.142883469500583e-5
allele num: 32558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1616C>T
  hgvsp: ENSP00000368417.3:p.Ala539Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.184C>T
  hgvsp: ENSP00000454068.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.786C>T
  hgvsp: ENSP00000453804.1:p.Ala263Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1467C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1832C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1631C>T
  hgvsp: ENSP00000394720.2:p.Ala544Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1631C>T
  hgvsp: ENSP00000332204.6:p.Ala544Val
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.363C>T
  hgvsp: ENSP00000453866.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala544Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

15-90769009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769009
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769009
    reference: chr 15
allele count: 1
allele frequency: 3.211922656902422e-5
allele num: 31134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.191C>T
  hgvsp: ENST00000559247.1:c.191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1638C>T
  hgvsp: ENST00000332496.6:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1623C>T
  hgvsp: ENST00000379122.3:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1638C>T
  hgvsp: ENST00000411539.2:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.370C>T
  hgvsp: ENST00000559983.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1474C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1839C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.793C>T
  hgvsp: ENST00000559074.1:c.793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34176
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser546Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-90769010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769010
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769010
    reference: chr 15
allele count: 3
allele frequency: 9.620318111852232e-5
allele num: 31184
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1639G>A
  hgvsp: ENSP00000394720.2:p.Gly547Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1840G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1624G>A
  hgvsp: ENSP00000368417.3:p.Gly542Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.794G>A
  hgvsp: ENSP00000453804.1:p.Gly266Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1639G>A
  hgvsp: ENSP00000332204.6:p.Gly547Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.192G>A
  hgvsp: ENSP00000454068.1:p.Gly65Ser
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1475G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.371G>A
  hgvsp: ENSP00000453866.1:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34374
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9750
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly547Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

15-90769012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769012
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769012
    reference: chr 15
allele count: 3
allele frequency: 9.568157172928494e-5
allele num: 31354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.194C>T
  hgvsp: ENST00000559247.1:c.194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1842C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1641C>T
  hgvsp: ENST00000411539.2:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.796C>T
  hgvsp: ENST00000559074.1:c.796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1641C>T
  hgvsp: ENST00000332496.6:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1626C>T
  hgvsp: ENST00000379122.3:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.373C>T
  hgvsp: ENST00000559983.1:c.373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1477C>T
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gly547Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

15-90769014-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769014
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769014
    reference: chr 15
allele count: 1
allele frequency: 3.199385717942155e-5
allele num: 31256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1844C>G
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1479C>G
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1628C>G
  hgvsp: ENSP00000368417.3:p.Ser543Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.196C>G
  hgvsp: ENSP00000454068.1:p.Ser66Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1643C>G
  hgvsp: ENSP00000394720.2:p.Ser548Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1643C>G
  hgvsp: ENSP00000332204.6:p.Ser548Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.798C>G
  hgvsp: ENSP00000453804.1:p.Ser267Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.375C>G
  hgvsp: ENSP00000453866.1:p.Ser126Cys
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser548Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

15-90769024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769024
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769024
    reference: chr 15
allele count: 1
allele frequency: 3.345600535296086e-5
allele num: 29890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1653G>A
  hgvsp: ENST00000332496.6:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1489G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.206G>A
  hgvsp: ENST00000559247.1:c.206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1653G>A
  hgvsp: ENST00000411539.2:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.808G>A
  hgvsp: ENST00000559074.1:c.808G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1638G>A
  hgvsp: ENST00000379122.3:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.385G>A
  hgvsp: ENST00000559983.1:c.385G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1854G>A
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys551Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-90769025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769025
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769025
    reference: chr 15
allele count: 1
allele frequency: 3.363605785401951e-5
allele num: 29730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1855C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1654C>T
  hgvsp: ENSP00000332204.6:p.His552Tyr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.809C>T
  hgvsp: ENSP00000453804.1:p.His271Tyr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1654C>T
  hgvsp: ENSP00000394720.2:p.His552Tyr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1639C>T
  hgvsp: ENSP00000368417.3:p.His547Tyr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.207C>T
  hgvsp: ENSP00000454068.1:p.His70Tyr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.386C>T
  hgvsp: ENSP00000453866.1:p.His130Tyr
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1490C>T
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His552Tyr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-90769027-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769027
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769027
    reference: chr 15
allele count: 1
allele frequency: 3.37655321447866e-5
allele num: 29616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.209C>A
  hgvsp: ENSP00000454068.1:p.His70Gln
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1492C>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1641C>A
  hgvsp: ENSP00000368417.3:p.His547Gln
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1656C>A
  hgvsp: ENSP00000332204.6:p.His552Gln
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1857C>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.811C>A
  hgvsp: ENSP00000453804.1:p.His271Gln
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1656C>A
  hgvsp: ENSP00000394720.2:p.His552Gln
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.388C>A
  hgvsp: ENSP00000453866.1:p.His130Gln
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His552Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-90769027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769027
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769027
    reference: chr 15
allele count: 7
allele frequency: 2.363587250135062e-4
allele num: 29616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1492C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1857C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1656C>T
  hgvsp: ENST00000332496.6:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1641C>T
  hgvsp: ENST00000379122.3:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.811C>T
  hgvsp: ENST00000559074.1:c.811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.209C>T
  hgvsp: ENST00000559247.1:c.209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1656C>T
  hgvsp: ENST00000411539.2:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.388C>T
  hgvsp: ENST00000559983.1:c.388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34818
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His552His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

15-90769028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769028
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769028
    reference: chr 15
allele count: 1
allele frequency: 3.403212632725293e-5
allele num: 29384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1858G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.812G>A
  hgvsp: ENSP00000453804.1:p.Val272Ile
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.210G>A
  hgvsp: ENSP00000454068.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1657G>A
  hgvsp: ENSP00000332204.6:p.Val553Ile
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1657G>A
  hgvsp: ENSP00000394720.2:p.Val553Ile
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.389G>A
  hgvsp: ENSP00000453866.1:p.Val131Ile
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1642G>A
  hgvsp: ENSP00000368417.3:p.Val548Ile
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1493G>A
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val553Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

15-90769028-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769028
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769028
    reference: chr 15
allele count: 17
allele frequency: 5.785461475632998e-4
allele num: 29384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.812G>C
  hgvsp: ENSP00000453804.1:p.Val272Leu
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1493G>C
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.210G>C
  hgvsp: ENSP00000454068.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1657G>C
  hgvsp: ENSP00000394720.2:p.Val553Leu
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1657G>C
  hgvsp: ENSP00000332204.6:p.Val553Leu
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1642G>C
  hgvsp: ENSP00000368417.3:p.Val548Leu
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1858G>C
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.389G>C
  hgvsp: ENSP00000453866.1:p.Val131Leu
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34870
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val553Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

15-90769033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769033
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769033
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 28508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.215C>T
  hgvsp: ENST00000559247.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1498C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1662C>T
  hgvsp: ENST00000332496.6:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1647C>T
  hgvsp: ENST00000379122.3:c.1647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1863C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1662C>T
  hgvsp: ENST00000411539.2:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.817C>T
  hgvsp: ENST00000559074.1:c.817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.394C>T
  hgvsp: ENST00000559983.1:c.394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34836
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10791
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser554Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

15-90769037-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769037
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769037
    reference: chr 15
allele count: 1
allele frequency: 3.421610894409088e-5
allele num: 29226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.398T>C
  hgvsp: ENSP00000453866.1:p.Tyr134His
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1666T>C
  hgvsp: ENSP00000332204.6:p.Tyr556His
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1867T>C
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1651T>C
  hgvsp: ENSP00000368417.3:p.Tyr551His
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1502T>C
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1666T>C
  hgvsp: ENSP00000394720.2:p.Tyr556His
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.219T>C
  hgvsp: ENSP00000454068.1:p.Tyr74His
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.821T>C
  hgvsp: ENSP00000453804.1:p.Tyr275His
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr556His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

15-90769037-T-TACCAGCCTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769037
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769047
    reference: chr 15
allele count: 1
allele frequency: 3.421610894409088e-5
allele num: 29226
alternate allele: TACCAGCCTCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsp: ENSP00000454068.1:p.Leu78ProfsTer57
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsp: ENSP00000332204.6:p.Leu560ProfsTer41
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsp: ENSP00000453866.1:p.Leu138ProfsTer41
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsp: ENSP00000453804.1:p.Leu279ProfsTer41
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsp: ENSP00000368417.3:p.Leu555ProfsTer37
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsp: ENSP00000394720.2:p.Leu560ProfsTer41
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu560ProfsTer41
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

15-90769038-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769038
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769038
    reference: chr 15
allele count: 1
allele frequency: 3.478260869565217e-5
allele num: 28750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.220A>G
  hgvsp: ENSP00000454068.1:p.Tyr74Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1667A>G
  hgvsp: ENSP00000332204.6:p.Tyr556Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1667A>G
  hgvsp: ENSP00000394720.2:p.Tyr556Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.399A>G
  hgvsp: ENSP00000453866.1:p.Tyr134Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.822A>G
  hgvsp: ENSP00000453804.1:p.Tyr275Cys
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1868A>G
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1503A>G
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1652A>G
  hgvsp: ENSP00000368417.3:p.Tyr551Cys
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr556Cys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

15-90769060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769060
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769060
    reference: chr 15
allele count: 1
allele frequency: 3.784151971543177e-5
allele num: 26426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.843+1G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.241+1G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1673+1G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.420+1G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1688+1G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1688+1G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1889+1G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1524+1G>A
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33744
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1688+1G>A
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

15-90769067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769067
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769067
    reference: chr 15
allele count: 1
allele frequency: 3.93360081818897e-5
allele num: 25422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1524+8C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1889+8C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.420+8C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1673+8C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.241+8C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1688+8C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.843+8C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1688+8C>T
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32353
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1688+8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

15-90769069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769069
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769069
    reference: chr 15
allele count: 3
allele frequency: 1.196172248803828e-4
allele num: 25080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.241+10C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1688+10C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1889+10C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1688+10C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1673+10C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1524+10C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.843+10C>T
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.420+10C>T
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31852
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33021
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

15-90769076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90769076
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 90769076
    reference: chr 15
allele count: 1
allele frequency: 4.07232448281479e-5
allele num: 24556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000454068
  ensembl transcript: ENST00000559247
  gene symbol: SEMA4B
  hgvsc: ENST00000559247.1:c.241+17G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000394720
  ensembl transcript: ENST00000411539
  gene symbol: SEMA4B
  hgvsc: ENST00000411539.2:c.1688+17G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000332204
  ensembl transcript: ENST00000332496
  gene symbol: SEMA4B
  hgvsc: ENST00000332496.6:c.1688+17G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453866
  ensembl transcript: ENST00000559983
  gene symbol: SEMA4B
  hgvsc: ENST00000559983.1:c.420+17G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453484
  ensembl transcript: ENST00000560089
  gene symbol: SEMA4B
  hgvsc: ENST00000560089.1:c.*1524+17G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000453804
  ensembl transcript: ENST00000559074
  gene symbol: SEMA4B
  hgvsc: ENST00000559074.1:c.843+17G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl transcript: ENST00000558065
  gene symbol: SEMA4B
  hgvsc: ENST00000558065.1:n.1889+17G>A
  variant of: http://identifiers.org/hgnc/10730
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185033
  ensembl protein: ENSP00000368417
  ensembl transcript: ENST00000379122
  gene symbol: SEMA4B
  hgvsc: ENST00000379122.3:c.1673+17G>A
  variant of: http://identifiers.org/hgnc/10730
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3669
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.907086734304676e-5
allele num: 52436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4980
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.84244721169464e-3
allele num: 7388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.412246e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.603e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 850
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

African
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.927200529450695e-5
allele num: 60440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.544933e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9706
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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South Asian
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allele frequency: 6.059871530723549e-5
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Latino
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allele frequency: 8.661008141347653e-5
allele num: 11546
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East Asian
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Other
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allele frequency: 0.0e0
allele num: 894
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European (Non-Finnish)
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allele frequency: 1.206454531744835e-4
allele num: 66310
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

DP
type: SiteQuality
SIO_000300: 1.625456e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

East Asian
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African
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South Asian
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Other
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Latino
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allele frequency: 1.731002250302925e-4
allele num: 11554
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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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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.62637e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66446
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Latino
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allele count: 0
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allele num: 11556
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African
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Other
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South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.057e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.576e1

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.626909e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16506
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.019744762822056e-5
allele num: 66448
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Other
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East Asian
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.627044e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

FS
type: SiteQuality
SIO_000300: 4.043e0

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

QD
type: SiteQuality
SIO_000300: 1.19e1

DP
type: SiteQuality
SIO_000300: 1.626625e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
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Other
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

ReadPosRankSum
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SIO_000300: 2.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66338
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
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South Asian
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allele frequency: 0.0e0
allele num: 16504
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.618e0

QD
type: SiteQuality
SIO_000300: 1.405e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.62445e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66310
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European (Finnish)
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African
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allele frequency: 2.063557573256294e-4
allele num: 9692
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East Asian
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 1.623625e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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Other
type: Population
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6594
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East Asian
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 7.558121957855912e-5
allele num: 66154
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South Asian
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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allele num: 6584
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Other
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East 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 frequency: 4.54297655824096e-5
allele num: 66036
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South Asian
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African
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Other
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Latino
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allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.545069682642687e-5
allele num: 64722
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East Asian
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Latino
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Other
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Other
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South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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allele frequency: 3.095304423190021e-5
allele num: 64614
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 9.691629955947136e-4
allele num: 11350
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African
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allele frequency: 6.702702702702703e-3
allele num: 9250
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63408
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East Asian
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allele frequency: 0.0e0
allele num: 8262
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Other
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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FS
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DP
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8092
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11278
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.603694913079736e-5
allele num: 62356
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.042e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

DP
type: SiteQuality
SIO_000300: 1.498214e6

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8058
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11254
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6336
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.611084259706783e-5
allele num: 62070
num of homozygotes: 0

South Asian
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Other
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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DP
type: SiteQuality
SIO_000300: 1.473034e6

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.627339300244101e-5
allele num: 61450
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16002
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Other
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allele frequency: 0.0e0
allele num: 874
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6302
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BaseQRankSum
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QD
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DP
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SIO_000300: 1.43189e6

FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
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allele frequency: 6.315523556902867e-5
allele num: 15834
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60250
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

QD
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FS
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VQSLOD
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InbreedingCoeff
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DP
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SIO_000300: 1.390754e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.693652191585936e-5
allele num: 59044
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6164
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.782e0

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64610
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Other
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African
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East Asian
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South Asian
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allele frequency: 6.159911297277319e-5
allele num: 16234
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Latino
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allele frequency: 0.0e0
allele num: 11234
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6536
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MQ
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FS
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.880994671403197e-5
allele num: 11260
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European (Non-Finnish)
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South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.227445685528415e-3
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Latino
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allele frequency: 6.205673758865249e-4
allele num: 11280
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European (Finnish)
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allele frequency: 1.373626373626374e-3
allele num: 6552
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East Asian
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European (Non-Finnish)
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allele frequency: 6.078840722092595e-3
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African
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allele frequency: 1.574968500629987e-3
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Other
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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DP
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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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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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.517404631118934e-5
allele num: 65902
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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South Asian
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 6.069618524475737e-5
allele num: 65902
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Other
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeQuality
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East Asian
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allele frequency: 1.167406023815083e-4
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South Asian
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allele frequency: 1.823486506199854e-4
allele num: 16452
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Latino
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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MQRankSum
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DP
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 1.431492842535787e-3
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Latino
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allele frequency: 8.722958827634333e-5
allele num: 11464
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European (Non-Finnish)
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Other
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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South Asian
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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East Asian
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Other
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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MQ
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BaseQRankSum
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SIO_000300: -7.03e-1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
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East Asian
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Other
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South Asian
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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GenotypeQuality
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South Asian
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allele frequency: 1.831725485407254e-4
allele num: 16378
num of homozygotes: 0

Latino
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European (Finnish)
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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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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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Latino
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South Asian
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

Other
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South Asian
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East Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.526624328285296e-5
allele num: 65504
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64960
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Other
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Latino
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South Asian
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European (Finnish)
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East Asian
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African
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VQSLOD
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MQRankSum
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MQ
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QD
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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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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Other
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VQSLOD
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QD
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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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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Latino
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Other
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European (Non-Finnish)
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FS
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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MQ
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MQRankSum
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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Other
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MQ
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DP
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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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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East Asian
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European (Non-Finnish)
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African
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Latino
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MQRankSum
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ReadPosRankSum
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FS
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 5.81085e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.36e-2

QD
type: SiteQuality
SIO_000300: 1.057e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 26

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 16391
bin: 7.5e0
variant carriers: 14

GenotypeQuality
all individuals: 3470
bin: 1.25e1
variant carriers: 14

GenotypeQuality
all individuals: 317
bin: 8.25e1
variant carriers: 20

GenotypeQuality
all individuals: 21579
bin: 2.25e1
variant carriers: 25

GenotypeQuality
all individuals: 841
bin: 3.25e1
variant carriers: 13

GenotypeQuality
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bin: 9.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1293
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 4610
bin: 1.75e1
variant carriers: 19

GenotypeQuality
all individuals: 951
bin: 6.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1373
bin: 9.75e1
variant carriers: 315

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 389
bin: 3.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

African
type: Population
allele count: 275
allele frequency: 1.027653213751868e-1
allele num: 2676
num of homozygotes: 16

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

Other
type: Population
allele count: 3
allele frequency: 1.31578947368421e-2
allele num: 228
num of homozygotes: 0

Latino
type: Population
allele count: 33
allele frequency: 3.216374269005848e-2
allele num: 1026
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 1.576789656259855e-3
allele num: 12684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 5.85744e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.47e1

FS
type: SiteQuality
SIO_000300: 3.215e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 454
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 6.0221e5

GenotypeQuality
all individuals: 614
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25630
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GenotypeQuality
all individuals: 985
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variant carriers: 0

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 14494
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141869e-4
allele num: 1156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.278e0

DP
type: SiteQuality
SIO_000300: 6.06764e5

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
all individuals: 26013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14092
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
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variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
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GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.284382284382284e-5
allele num: 13728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 6.10883e5

FS
type: SiteQuality
SIO_000300: 2.581e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 7203
bin: 7.5e0
variant carriers: 601

GenotypeQuality
all individuals: 1904
bin: 1.25e1
variant carriers: 718

GenotypeQuality
all individuals: 752
bin: 5.75e1
variant carriers: 728

GenotypeQuality
all individuals: 4420
bin: 6.25e1
variant carriers: 725

GenotypeQuality
all individuals: 618
bin: 3.75e1
variant carriers: 473

GenotypeQuality
all individuals: 1348
bin: 2.75e1
variant carriers: 839

GenotypeQuality
all individuals: 568
bin: 5.25e1
variant carriers: 525

GenotypeQuality
all individuals: 1076
bin: 9.25e1
variant carriers: 1052

GenotypeQuality
all individuals: 5546
bin: 2.5e0
variant carriers: 84

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 695

GenotypeQuality
all individuals: 811
bin: 6.75e1
variant carriers: 390

GenotypeQuality
all individuals: 1174
bin: 3.25e1
variant carriers: 791

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 951

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 296

South Asian
type: Population
allele count: 2101
allele frequency: 2.435095039406583e-1
allele num: 8628
num of homozygotes: 247

East Asian
type: Population
allele count: 332
allele frequency: 2.046855733662145e-1
allele num: 1622
num of homozygotes: 13

African
type: Population
allele count: 2640
allele frequency: 6.821705426356589e-1
allele num: 3870
num of homozygotes: 858

European (Non-Finnish)
type: Population
allele count: 9262
allele frequency: 4.30870859694827e-1
allele num: 21496
num of homozygotes: 1411

European (Finnish)
type: Population
allele count: 655
allele frequency: 4.231266149870801e-1
allele num: 1548
num of homozygotes: 95

Latino
type: Population
allele count: 782
allele frequency: 3.716730038022814e-1
allele num: 2104
num of homozygotes: 86

Other
type: Population
allele count: 128
allele frequency: 3.809523809523809e-1
allele num: 336
num of homozygotes: 17

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 7.31381e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.194e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.823e1

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
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GenotypeQuality
all individuals: 5809
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variant carriers: 1

GenotypeQuality
all individuals: 6610
bin: 6.25e1
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GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 1796
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GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 243
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variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24662
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.09637e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.318e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

QD
type: SiteQuality
SIO_000300: 2.843e1

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5388
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variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 6.75e1
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GenotypeQuality
all individuals: 242
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GenotypeQuality
all individuals: 25270
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variant carriers: 1

GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.10127e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 717
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 7.25e1
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GenotypeQuality
all individuals: 28658
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
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variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
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GenotypeQuality
all individuals: 5420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.627462014631401e-5
allele num: 17770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.97186e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

FS
type: SiteQuality
SIO_000300: 2.143e0

VQSLOD
type: SiteQuality
SIO_000300: -3.781e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 747
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GenotypeQuality
all individuals: 2690
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variant carriers: 1

GenotypeQuality
all individuals: 412
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variant carriers: 4

GenotypeQuality
all individuals: 731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.251564455569462e-3
allele num: 1598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.285412262156448e-4
allele num: 1892
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

FS
type: SiteQuality
SIO_000300: 1.929e0

DP
type: SiteQuality
SIO_000300: 5.89237e5

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 9947
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.131861912846633e-4
allele num: 17670
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 2.925e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
SIO_000300: 5.90643e5

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.25e-4
allele num: 1600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.234e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.925e0

DP
type: SiteQuality
SIO_000300: 5.90643e5

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.68569479190357e-5
allele num: 17588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 5.90511e5

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 6.85e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 219
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.035246727089627e-4
allele num: 1986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.656e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

DP
type: SiteQuality
SIO_000300: 5.88594e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 407
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GenotypeQuality
all individuals: 1969
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.130071194485253e-4
allele num: 17698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
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: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

QD
type: SiteQuality
SIO_000300: 8.94e0

FS
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 5.66344e5

VQSLOD
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.910165484633569e-5
allele num: 16920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
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: 270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.56686e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -5.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 7.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.17799505242078e-4
allele num: 16978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.599712023038157e-4
allele num: 2778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 2.596e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 5.5337e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9681
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 98
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.746216530849825e-4
allele num: 17180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 2.624e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 5.53577e5

GenotypeQuality
all individuals: 35482
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.61794500723589e-4
allele num: 2764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.52513e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

FS
type: SiteQuality
SIO_000300: 9.548e0

VQSLOD
type: SiteQuality
SIO_000300: -6.439e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.737e1

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.978000956480153e-5
allele num: 16728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.40172e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

QD
type: SiteQuality
SIO_000300: 8.08e0

MQRankSum
type: SiteQuality
SIO_000300: -1.356e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

GenotypeQuality
all individuals: 35345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10098
bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.825554705432288e-4
allele num: 2614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -2.505e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

QD
type: SiteQuality
SIO_000300: 3.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.39675e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 10173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 1644
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2044
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variant carriers: 0

GenotypeQuality
all individuals: 210
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.995203836930456e-5
allele num: 16680
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.38635e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: -7.598e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.093e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 410
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 741
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1644
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 2

GenotypeQuality
all individuals: 114
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4296
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.235602094240838e-4
allele num: 1910
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.700680272108843e-3
allele num: 2352
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.930817610062893e-4
allele num: 2544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.995203836930456e-5
allele num: 16680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.598e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 5.38635e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
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GenotypeQuality
all individuals: 35543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 420
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variant carriers: 1

GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.955696202531646e-4
allele num: 2528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 1.0145e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 5.38741e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 420
bin: 9.75e1
variant carriers: 17

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2644
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 4.065040650406504e-3
allele num: 4182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

FS
type: SiteQuality
SIO_000300: 1.0145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

DP
type: SiteQuality
SIO_000300: 5.38741e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 4.75e1
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GenotypeQuality
all individuals: 87
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1858
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 79
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.73e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.32993e5

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10519
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1608
bin: 1.25e1
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GenotypeQuality
all individuals: 1397
bin: 3.25e1
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GenotypeQuality
all individuals: 238
bin: 6.75e1
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GenotypeQuality
all individuals: 1972
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 3105
bin: 6.25e1
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GenotypeQuality
all individuals: 79
bin: 7.25e1
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GenotypeQuality
all individuals: 404
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variant carriers: 1

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.918560606060606e-5
allele num: 16896
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 7.19e0

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.38799e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

GenotypeQuality
all individuals: 79
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.883506343713956e-4
allele num: 3468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 5.38799e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.011060351045924e-5
allele num: 16636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.39933e5

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.393673110720562e-4
allele num: 2276
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.06054e5

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.476e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 2715
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 70
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.367804381049414e-5
allele num: 15704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2258
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 4.89299e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.782e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.938986556359876e-4
allele num: 15472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 4.835e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.92e-2

QD
type: SiteQuality
SIO_000300: 1.073e1