16-18844462-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844462
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844462
    reference: chr 16
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8592C>A
  hgvsp: ENST00000389467.3:c.8592C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8262C>A
  hgvsp: ENST00000565324.1:c.8262C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8592C>A
  hgvsp: ENST00000446231.2:c.8592C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile2864Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

16-18844464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844464
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844464
    reference: chr 16
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8590A>G
  hgvsp: ENSP00000374118.3:p.Ile2864Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8260A>G
  hgvsp: ENSP00000456259.1:p.Ile2754Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8590A>G
  hgvsp: ENSP00000402515.2:p.Ile2864Val
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile2864Val
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-18844469-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844469
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844469
    reference: chr 16
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8255G>T
  hgvsp: ENSP00000456259.1:p.Arg2752Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8585G>T
  hgvsp: ENSP00000374118.3:p.Arg2862Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8585G>T
  hgvsp: ENSP00000402515.2:p.Arg2862Leu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42765
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg2862Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-18844469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844469
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844469
    reference: chr 16
allele count: 2
allele frequency: 1.665334399147349e-5
allele num: 120096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8255G>A
  hgvsp: ENSP00000456259.1:p.Arg2752Gln
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8585G>A
  hgvsp: ENSP00000374118.3:p.Arg2862Gln
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8585G>A
  hgvsp: ENSP00000402515.2:p.Arg2862Gln
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24755
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg2862Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-18844470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844470
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844470
    reference: chr 16
allele count: 4
allele frequency: 3.332944489809522e-5
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8584C>T
  hgvsp: ENSP00000374118.3:p.Arg2862Trp
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8254C>T
  hgvsp: ENSP00000456259.1:p.Arg2752Trp
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8584C>T
  hgvsp: ENSP00000402515.2:p.Arg2862Trp
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2862Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

16-18844477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844477
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844477
    reference: chr 16
allele count: 6
allele frequency: 5.047870639901734e-5
allele num: 118862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8577G>A
  hgvsp: ENST00000446231.2:c.8577G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8577G>A
  hgvsp: ENST00000389467.3:c.8577G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8247G>A
  hgvsp: ENST00000565324.1:c.8247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2859Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-18844478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844478
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844478
    reference: chr 16
allele count: 1
allele frequency: 8.437109783672505e-6
allele num: 118524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8576C>T
  hgvsp: ENSP00000374118.3:p.Ser2859Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8246C>T
  hgvsp: ENSP00000456259.1:p.Ser2749Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8576C>T
  hgvsp: ENSP00000402515.2:p.Ser2859Leu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2859Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

16-18844486-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844486
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844486
    reference: chr 16
allele count: 1
allele frequency: 8.858808313105721e-6
allele num: 112882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8568A>T
  hgvsp: ENSP00000374118.3:p.Glu2856Asp
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8568A>T
  hgvsp: ENSP00000402515.2:p.Glu2856Asp
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8238A>T
  hgvsp: ENSP00000456259.1:p.Glu2746Asp
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu2856Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-18844486-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844486
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844486
    reference: chr 16
allele count: 1
allele frequency: 8.858808313105721e-6
allele num: 112882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8568A>G
  hgvsp: ENST00000389467.3:c.8568A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8568A>G
  hgvsp: ENST00000446231.2:c.8568A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8238A>G
  hgvsp: ENST00000565324.1:c.8238A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 1
hgvs: c.8568A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-18844492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844492
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844492
    reference: chr 16
allele count: 2
allele frequency: 1.871923026525149e-5
allele num: 106842
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-4A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-4A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-4A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18384
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
hgvs: c.8566-4A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

16-18844500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844500
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844500
    reference: chr 16
allele count: 1
allele frequency: 1.018599629229735e-5
allele num: 98174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-12A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-12A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-12A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12666
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

16-18844501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844501
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844501
    reference: chr 16
allele count: 1
allele frequency: 1.029018316526034e-5
allele num: 97180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-13C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-13C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-13C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-18844502-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844502
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844502
    reference: chr 16
allele count: 1
allele frequency: 1.037495071898408e-5
allele num: 96386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-14T>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-14T>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-14T>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15571
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

16-18844503-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844503
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844504
    reference: chr 16
allele count: 2
allele frequency: 2.099649358557121e-5
allele num: 95254
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-16dupT
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-16dupT
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-16dupT
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

16-18844503-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844503
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844502
    reference: chr 16
allele count: 5
allele frequency: 5.249123396392803e-5
allele num: 95254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-16delT
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-16delT
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-16delT
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 29164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: GA
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-18844509-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844509
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844509
    reference: chr 16
allele count: 1
allele frequency: 1.118167993559352e-5
allele num: 89432
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-21T>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-21T>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-21T>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

16-18844511-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844511
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844512
    reference: chr 16
allele count: 1
allele frequency: 1.155748694003976e-5
allele num: 86524
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-24dupA
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-24dupA
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-24dupA
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/16-18844516-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844516
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844516
    reference: chr 16
allele count: 9
allele frequency: 1.146117209586634e-4
allele num: 78526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-28T>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-28T>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-28T>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26457
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

16-18844517-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844517
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844517
    reference: chr 16
allele count: 2
allele frequency: 2.66545832555908e-5
allele num: 75034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-29T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-29T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-29T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25614
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

16-18844519-GTTTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844515
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 66308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-35_8566-32delAAAA
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-35_8236-32delAAAA
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-35_8566-32delAAAA
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10074
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: GTTTT
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD

16-18844525-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844525
    reference: chr 16
allele count: 3
allele frequency: 5.035077708032627e-5
allele num: 59582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-37A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-37A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-37A>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19952
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4903
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

16-18844530-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18844530
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18844530
    reference: chr 16
allele count: 1
allele frequency: 2.000080003200128e-5
allele num: 49998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8236-42A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8566-42A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8566-42A>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15993
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

16-18845483-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845483
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845483
    reference: chr 16
allele count: 2
allele frequency: 9.124920156948626e-5
allele num: 21918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8565+43A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8235+43A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8565+43A>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35641
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-18845498-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845498
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845498
    reference: chr 16
allele count: 1
allele frequency: 4.420475643179206e-5
allele num: 22622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8565+28T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8235+28T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8565+28T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

16-18845513-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845513
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845513
    reference: chr 16
allele count: 2
allele frequency: 8.109642364771714e-5
allele num: 24662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8565+13A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8235+13A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8565+13A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-18845513-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845513
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845511
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 24662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8565+11_8565+12delTT
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8565+11_8565+12delTT
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8235+11_8235+12delTT
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22048
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: TAA
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

16-18845519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845519
    reference: chr 16
allele count: 14
allele frequency: 5.263949466085125e-4
allele num: 26596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8565+7A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8565+7A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8235+7A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17709
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28511
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 3
hgvs: c.8565+7A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

16-18845544-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845544
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845544
    reference: chr 16
allele count: 1
allele frequency: 2.247898215168817e-5
allele num: 44486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8547A>C
  hgvsp: ENST00000389467.3:c.8547A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8547A>C
  hgvsp: ENST00000446231.2:c.8547A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8217A>C
  hgvsp: ENST00000565324.1:c.8217A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly2849Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-18845548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845548
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845548
    reference: chr 16
allele count: 1
allele frequency: 2.092050209205021e-5
allele num: 47800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8543A>G
  hgvsp: ENSP00000374118.3:p.Asn2848Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8213A>G
  hgvsp: ENSP00000456259.1:p.Asn2738Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8543A>G
  hgvsp: ENSP00000402515.2:p.Asn2848Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn2848Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

16-18845560-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845560
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845560
    reference: chr 16
allele count: 1
allele frequency: 1.733763306633378e-5
allele num: 57678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8201T>C
  hgvsp: ENSP00000456259.1:p.Val2734Ala
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8531T>C
  hgvsp: ENSP00000374118.3:p.Val2844Ala
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8531T>C
  hgvsp: ENSP00000402515.2:p.Val2844Ala
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val2844Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

16-18845571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845571
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845571
    reference: chr 16
allele count: 2
allele frequency: 3.033980582524272e-5
allele num: 65920
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8520G>A
  hgvsp: ENST00000446231.2:c.8520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8190G>A
  hgvsp: ENST00000565324.1:c.8190G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8520G>A
  hgvsp: ENST00000389467.3:c.8520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala2840Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

16-18845572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845572
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845572
    reference: chr 16
allele count: 9
allele frequency: 1.33479666597455e-4
allele num: 67426
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8519C>T
  hgvsp: ENSP00000402515.2:p.Ala2840Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8189C>T
  hgvsp: ENSP00000456259.1:p.Ala2730Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8519C>T
  hgvsp: ENSP00000374118.3:p.Ala2840Val
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21516
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2840Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

16-18845582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845582
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845582
    reference: chr 16
allele count: 1
allele frequency: 1.317627216907793e-5
allele num: 75894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8179C>T
  hgvsp: ENSP00000456259.1:p.Pro2727Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8509C>T
  hgvsp: ENSP00000374118.3:p.Pro2837Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8509C>T
  hgvsp: ENSP00000402515.2:p.Pro2837Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro2837Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-18845586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845586
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845586
    reference: chr 16
allele count: 1
allele frequency: 1.281000204960033e-5
allele num: 78064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8175G>A
  hgvsp: ENST00000565324.1:c.8175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8505G>A
  hgvsp: ENST00000446231.2:c.8505G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8505G>A
  hgvsp: ENST00000389467.3:c.8505G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2835Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

16-18845587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845587
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845587
    reference: chr 16
allele count: 1
allele frequency: 1.264062697509796e-5
allele num: 79110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8174C>T
  hgvsp: ENSP00000456259.1:p.Pro2725Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8504C>T
  hgvsp: ENSP00000402515.2:p.Pro2835Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8504C>T
  hgvsp: ENSP00000374118.3:p.Pro2835Leu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro2835Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

16-18845589-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845589
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845589
    reference: chr 16
allele count: 8
allele frequency: 9.90148027130056e-5
allele num: 80796
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8502C>A
  hgvsp: ENST00000446231.2:c.8502C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8172C>A
  hgvsp: ENST00000565324.1:c.8172C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8502C>A
  hgvsp: ENST00000389467.3:c.8502C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25152
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile2834Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-18845595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845595
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845595
    reference: chr 16
allele count: 1
allele frequency: 1.196658928272264e-5
allele num: 83566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8166A>G
  hgvsp: ENST00000565324.1:c.8166A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8496A>G
  hgvsp: ENST00000446231.2:c.8496A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8496A>G
  hgvsp: ENST00000389467.3:c.8496A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu2832Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-18845606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845606
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845606
    reference: chr 16
allele count: 1
allele frequency: 1.132374589514211e-5
allele num: 88310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8485C>T
  hgvsp: ENSP00000374118.3:p.Pro2829Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8155C>T
  hgvsp: ENSP00000456259.1:p.Pro2719Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8485C>T
  hgvsp: ENSP00000402515.2:p.Pro2829Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro2829Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/16-18845609-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845609
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845609
    reference: chr 16
allele count: 11
allele frequency: 1.21886357592412e-4
allele num: 90248
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8482G>T
  hgvsp: ENSP00000402515.2:p.Val2828Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8152G>T
  hgvsp: ENSP00000456259.1:p.Val2718Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8482G>T
  hgvsp: ENSP00000374118.3:p.Val2828Leu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27584
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Val2828Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

16-18845613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845613
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845613
    reference: chr 16
allele count: 1
allele frequency: 1.074367734588195e-5
allele num: 93078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8148C>T
  hgvsp: ENST00000565324.1:c.8148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8478C>T
  hgvsp: ENST00000446231.2:c.8478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8478C>T
  hgvsp: ENST00000389467.3:c.8478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His2826His
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: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-18845615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845615
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845615
    reference: chr 16
allele count: 25
allele frequency: 2.660989888238425e-4
allele num: 93950
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8476C>T
  hgvsp: ENSP00000402515.2:p.His2826Tyr
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8146C>T
  hgvsp: ENSP00000456259.1:p.His2716Tyr
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8476C>T
  hgvsp: ENSP00000374118.3:p.His2826Tyr
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29589
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His2826Tyr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-18845618-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845618
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845618
    reference: chr 16
allele count: 1
allele frequency: 1.043993903075606e-5
allele num: 95786
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8473T>A
  hgvsp: ENSP00000402515.2:p.Cys2825Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8143T>A
  hgvsp: ENSP00000456259.1:p.Cys2715Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8473T>A
  hgvsp: ENSP00000374118.3:p.Cys2825Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys2825Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-18845619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845619
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845619
    reference: chr 16
allele count: 10
allele frequency: 1.039630723167131e-4
allele num: 96188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8472G>T
  hgvsp: ENSP00000402515.2:p.Gln2824His
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8142G>T
  hgvsp: ENSP00000456259.1:p.Gln2714His
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8472G>T
  hgvsp: ENSP00000374118.3:p.Gln2824His
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30655
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln2824His
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

16-18845623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845623
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845623
    reference: chr 16
allele count: 1
allele frequency: 1.011204141892165e-5
allele num: 98892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8138A>G
  hgvsp: ENSP00000456259.1:p.Lys2713Arg
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8468A>G
  hgvsp: ENSP00000374118.3:p.Lys2823Arg
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8468A>G
  hgvsp: ENSP00000402515.2:p.Lys2823Arg
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys2823Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

16-18845640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845640
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845640
    reference: chr 16
allele count: 1
allele frequency: 9.38790837401427e-6
allele num: 106520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8451C>T
  hgvsp: ENST00000446231.2:c.8451C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8451C>T
  hgvsp: ENST00000389467.3:c.8451C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8121C>T
  hgvsp: ENST00000565324.1:c.8121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys2817Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-18845649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845649
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845649
    reference: chr 16
allele count: 2
allele frequency: 1.816893475535529e-5
allele num: 110078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8112C>T
  hgvsp: ENST00000565324.1:c.8112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8442C>T
  hgvsp: ENST00000389467.3:c.8442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8442C>T
  hgvsp: ENST00000446231.2:c.8442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn2814Asn
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

16-18845655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845655
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845655
    reference: chr 16
allele count: 1
allele frequency: 8.952230895939268e-6
allele num: 111704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8436C>T
  hgvsp: ENST00000446231.2:c.8436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8436C>T
  hgvsp: ENST00000389467.3:c.8436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8106C>T
  hgvsp: ENST00000565324.1:c.8106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2812Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

16-18845660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845660
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845660
    reference: chr 16
allele count: 1
allele frequency: 8.820986892013479e-6
allele num: 113366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8101A>G
  hgvsp: ENSP00000456259.1:p.Met2701Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8431A>G
  hgvsp: ENSP00000402515.2:p.Met2811Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8431A>G
  hgvsp: ENSP00000374118.3:p.Met2811Val
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met2811Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

16-18845670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845670
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845670
    reference: chr 16
allele count: 2
allele frequency: 1.73973556019485e-5
allele num: 114960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8091A>G
  hgvsp: ENST00000565324.1:c.8091A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8421A>G
  hgvsp: ENST00000389467.3:c.8421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8421A>G
  hgvsp: ENST00000446231.2:c.8421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu2807Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-18845672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845672
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845672
    reference: chr 16
allele count: 1
allele frequency: 8.689003197553177e-6
allele num: 115088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8419G>A
  hgvsp: ENSP00000374118.3:p.Glu2807Lys
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8089G>A
  hgvsp: ENSP00000456259.1:p.Glu2697Lys
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8419G>A
  hgvsp: ENSP00000402515.2:p.Glu2807Lys
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu2807Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-18845695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845695
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845695
    reference: chr 16
allele count: 1
allele frequency: 8.562083668681611e-6
allele num: 116794
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8396G>A
  hgvsp: ENSP00000402515.2:p.Arg2799Gln
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8396G>A
  hgvsp: ENSP00000374118.3:p.Arg2799Gln
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8066G>A
  hgvsp: ENSP00000456259.1:p.Arg2689Gln
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg2799Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-18845706-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845706
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845706
    reference: chr 16
allele count: 1
allele frequency: 8.558273282782466e-6
allele num: 116846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8385T>G
  hgvsp: ENSP00000374118.3:p.Asp2795Glu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8385T>G
  hgvsp: ENSP00000402515.2:p.Asp2795Glu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8055T>G
  hgvsp: ENSP00000456259.1:p.Asp2685Glu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp2795Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

16-18845710-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845710
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845710
    reference: chr 16
allele count: 2
allele frequency: 1.714971702966901e-5
allele num: 116620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8051T>C
  hgvsp: ENSP00000456259.1:p.Val2684Ala
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8381T>C
  hgvsp: ENSP00000402515.2:p.Val2794Ala
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8381T>C
  hgvsp: ENSP00000374118.3:p.Val2794Ala
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val2794Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-18845711-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845711
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845711
    reference: chr 16
allele count: 1
allele frequency: 8.579714123925391e-6
allele num: 116554
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8380G>C
  hgvsp: ENSP00000402515.2:p.Val2794Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8380G>C
  hgvsp: ENSP00000374118.3:p.Val2794Leu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8050G>C
  hgvsp: ENSP00000456259.1:p.Val2684Leu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val2794Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

16-18845715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845715
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845715
    reference: chr 16
allele count: 1
allele frequency: 8.609853115905842e-6
allele num: 116146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8376G>A
  hgvsp: ENST00000389467.3:c.8376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8376G>A
  hgvsp: ENST00000446231.2:c.8376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8046G>A
  hgvsp: ENST00000565324.1:c.8046G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln2792Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-18845720-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845720
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845720
    reference: chr 16
allele count: 1
allele frequency: 8.645732466454558e-6
allele num: 115664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8041G>C
  hgvsp: ENSP00000456259.1:p.Glu2681Gln
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8371G>C
  hgvsp: ENSP00000402515.2:p.Glu2791Gln
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8371G>C
  hgvsp: ENSP00000374118.3:p.Glu2791Gln
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu2791Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

16-18845730-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845730
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845730
    reference: chr 16
allele count: 2
allele frequency: 1.757901768449179e-5
allele num: 113772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8361A>C
  hgvsp: ENST00000389467.3:c.8361A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8361A>C
  hgvsp: ENST00000446231.2:c.8361A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8031A>C
  hgvsp: ENST00000565324.1:c.8031A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser2787Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-18845733-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845733
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845733
    reference: chr 16
allele count: 2
allele frequency: 1.768815777836738e-5
allele num: 113070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8028G>T
  hgvsp: ENST00000565324.1:c.8028G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8358G>T
  hgvsp: ENST00000389467.3:c.8358G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8358G>T
  hgvsp: ENST00000446231.2:c.8358G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala2786Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

16-18845733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845733
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845733
    reference: chr 16
allele count: 11
allele frequency: 9.728486778102061e-5
allele num: 113070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8358G>A
  hgvsp: ENST00000389467.3:c.8358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8028G>A
  hgvsp: ENST00000565324.1:c.8028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8358G>A
  hgvsp: ENST00000446231.2:c.8358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala2786Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

16-18845753-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845753
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845753
    reference: chr 16
allele count: 1
allele frequency: 9.642829591915451e-6
allele num: 103704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8338C>G
  hgvsp: ENSP00000374118.3:p.Leu2780Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8338C>G
  hgvsp: ENSP00000402515.2:p.Leu2780Val
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8008C>G
  hgvsp: ENSP00000456259.1:p.Leu2670Val
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu2780Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

16-18845766-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845766
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845766
    reference: chr 16
allele count: 6
allele frequency: 6.466492789860539e-5
allele num: 92786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-6T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-6T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-6T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18162
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
hgvs: c.8331-6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-18845769-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845769
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845769
    reference: chr 16
allele count: 2
allele frequency: 2.18789655625082e-5
allele num: 91412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-9C>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-9C>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-9C>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

16-18845771-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845771
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845771
    reference: chr 16
allele count: 1
allele frequency: 1.124834086972172e-5
allele num: 88902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-11A>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-11A>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-11A>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-18845774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845774
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845774
    reference: chr 16
allele count: 5
allele frequency: 5.707371641211789e-5
allele num: 87606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-14T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-14T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-14T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12426
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

16-18845777-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845777
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845777
    reference: chr 16
allele count: 1
allele frequency: 1.157809424568716e-5
allele num: 86370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-17A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-17A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-17A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23325
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

16-18845781-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845781
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845781
    reference: chr 16
allele count: 1
allele frequency: 1.198121345729895e-5
allele num: 83464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-21A>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-21A>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-21A>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

16-18845785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845785
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845785
    reference: chr 16
allele count: 2
allele frequency: 2.49233606659522e-5
allele num: 80246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-25C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-25C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-25C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16369
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-18845786-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845786
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845786
    reference: chr 16
allele count: 2
allele frequency: 2.511931675458427e-5
allele num: 79620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-26A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-26A>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-26A>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

16-18845798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845798
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845798
    reference: chr 16
allele count: 1
allele frequency: 1.425029213098868e-5
allele num: 70174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-38C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-38C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-38C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

16-18845800-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18845800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18845799
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 68894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8001-41delA
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8331-41delA
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8331-41delA
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20431
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: AT
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

16-18846164-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18846164
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18846164
    reference: chr 16
allele count: 3
allele frequency: 2.563007261853908e-5
allele num: 117050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8000+50T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8330+50T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8330+50T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7973
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-18846172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18846172
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18846172
    reference: chr 16
allele count: 2
allele frequency: 1.707008978867229e-5
allele num: 117164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8330+42A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8330+42A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8000+42A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7971
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

16-18846186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18846186
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18846186
    reference: chr 16
allele count: 1
allele frequency: 8.495599279573181e-6
allele num: 117708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8000+28A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8330+28A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8330+28A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-18846187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18846187
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18846187
    reference: chr 16
allele count: 10
allele frequency: 8.493146031152859e-5
allele num: 117742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8330+27C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8000+27C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8330+27C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

16-18846193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18846193
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18846193
    reference: chr 16
allele count: 12
allele frequency: 1.015658061785865e-4
allele num: 118150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8330+21T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8000+21T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8330+21T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7964
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

16-18846197-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18846197
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18846197
    reference: chr 16
allele count: 2
allele frequency: 1.688162603822e-5
allele num: 118472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.8330+17C>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.8000+17C>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.8330+17C>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7953
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8915
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e0

DP
type: SiteQuality
SIO_000300: 1.846108e6

FS
type: SiteQuality
SIO_000300: 2.094e0

QD
type: SiteQuality
SIO_000300: 1.313e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.845302e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 2.115e0

QD
type: SiteQuality
SIO_000300: 1.572e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 1.833971e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

FS
type: SiteQuality
SIO_000300: 1.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 1.681e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 1.059e0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 1.833971e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

QD
type: SiteQuality
SIO_000300: 1.681e1

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017137340091721e-5
allele num: 66288
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026483268322726e-4
allele num: 9742
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.39e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 1.831606e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.17170045510964e-4
allele num: 9668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

FS
type: SiteQuality
SIO_000300: 4.802e0

DP
type: SiteQuality
SIO_000300: 1.798219e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530081400330498e-5
allele num: 65356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.788702e6

VQSLOD
type: SiteQuality
SIO_000300: 4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

FS
type: SiteQuality
SIO_000300: 7.802e0

QD
type: SiteQuality
SIO_000300: 1.462e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

GenotypeQuality
all individuals: 35878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7382
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.253761283851555e-4
allele num: 7976
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.078e1

FS
type: SiteQuality
SIO_000300: 8.528e0

VQSLOD
type: SiteQuality
SIO_000300: -3.199e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.609262e6

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.502090459901178e-5
allele num: 10524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.528e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

DP
type: SiteQuality
SIO_000300: 1.609262e6

VQSLOD
type: SiteQuality
SIO_000300: -3.199e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.078e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 5931
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708992719691014e-5
allele num: 58514
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.45577792123951e-5
allele num: 15490
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

FS
type: SiteQuality
SIO_000300: 4.502e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

DP
type: SiteQuality
SIO_000300: 1.405605e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.247816321437484e-4
allele num: 8014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.129e0

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 1.5315e1

DP
type: SiteQuality
SIO_000300: 1.131191e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.259128682951398e-4
allele num: 7942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8746
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.109958e6

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.023e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

GenotypeQuality
all individuals: 2269
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.909563091964558e-5
allele num: 52368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.089008e6

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14496
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.574002574002574e-4
allele num: 7770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

FS
type: SiteQuality
SIO_000300: 3.982e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

QD
type: SiteQuality
SIO_000300: 8.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.068995e6

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.449227373068433e-4
allele num: 14496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

QD
type: SiteQuality
SIO_000300: 8.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

FS
type: SiteQuality
SIO_000300: 3.982e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

DP
type: SiteQuality
SIO_000300: 1.068995e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8933
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.069793434615226e-5
allele num: 48314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7310
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13922
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 4.49e0

VQSLOD
type: SiteQuality
SIO_000300: -2.418e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

DP
type: SiteQuality
SIO_000300: 9.46757e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 501
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.140319335644878e-5
allele num: 46722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

DP
type: SiteQuality
SIO_000300: 9.02729e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.535e0

QD
type: SiteQuality
SIO_000300: 1.158e1

GenotypeQuality
all individuals: 332
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 1.24031007751938e-3
allele num: 6450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.497902935889754e-4
allele num: 6676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42134
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.571e1

DP
type: SiteQuality
SIO_000300: 8.11682e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.458314757021846e-4
allele num: 4486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.82811e5

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.134e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

MQ
type: SiteQuality
SIO_000300: 5.58e1

QD
type: SiteQuality
SIO_000300: 1.552e1

DP
type: SiteQuality
SIO_000300: 7.3275e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

GenotypeQuality
all individuals: 295
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 6.180469715698393e-4
allele num: 3236
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4948
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.385496183206107e-4
allele num: 4192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.108e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 6.89889e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26434
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.403846153846154e-4
allele num: 4160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 6.55699e5

VQSLOD
type: SiteQuality
SIO_000300: -6.571e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.835270768358378e-4
allele num: 7054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.065e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 3.58918e5

GenotypeQuality
all individuals: 275
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.359434475258292e-4
allele num: 7356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

DP
type: SiteQuality
SIO_000300: 4.19366e5

QD
type: SiteQuality
SIO_000300: 1.258e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.67379679144385e-3
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

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

European (Finnish)
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: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.15292e5

QD
type: SiteQuality
SIO_000300: 1.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 5.15292e5

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 995
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.068903140930768e-3
allele num: 12162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.549389567147614e-4
allele num: 1802
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 5.69593e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.14e-2

QD
type: SiteQuality
SIO_000300: 1.413e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.779289493575208e-4
allele num: 2646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.077e0

DP
type: SiteQuality
SIO_000300: 7.43149e5

GenotypeQuality
all individuals: 373
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.050550874918989e-5
allele num: 24688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.66856e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.125e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30420
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.566735112936345e-4
allele num: 3896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.452e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 8.37004e5

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.856320772229441e-4
allele num: 10774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4666
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

DP
type: SiteQuality
SIO_000300: 9.01573e5

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.647e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 729
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 1.44e-3
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 9.13462e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22113
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.76818e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 1803
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.344885804061342e-5
allele num: 42646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.95646e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.423e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

FS
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 7.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6944
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.548469823901521e-5
allele num: 11698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43290
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 5.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.188e0

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.004702e6

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

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

African
type: Population
allele count: 1
allele frequency: 1.420454545454545e-4
allele num: 7040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.578781180928323e-4
allele num: 44338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11830
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.013067e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 1.077e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.013e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

GenotypeQuality
all individuals: 891
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.462415911085113e-4
allele num: 6838
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46072
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.238e0

DP
type: SiteQuality
SIO_000300: 1.031661e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

GenotypeQuality
all individuals: 433
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.344447432105405e-4
allele num: 7438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.92e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.725e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.068156e6

VQSLOD
type: SiteQuality
SIO_000300: -1.11e-2

GenotypeQuality
all individuals: 1908
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 5.299417064122947e-4
allele num: 7548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12558
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.488095238095238e-3
allele num: 672
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.300390117035111e-4
allele num: 7690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.98003992015968e-5
allele num: 50100
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.354e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 1.803e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

DP
type: SiteQuality
SIO_000300: 1.086116e6

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.927673683398874e-5
allele num: 51876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.451e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.17e0

VQSLOD
type: SiteQuality
SIO_000300: -2.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.110767e6

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.237930180737806e-4
allele num: 8078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 3.095975232198143e-3
allele num: 7752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 1.120285e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.674e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

GenotypeQuality
all individuals: 664
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.869228756215186e-5
allele num: 53498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13054
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.043e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 1.135155e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

GenotypeQuality
all individuals: 1660
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53722
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 1.195314367678699e-3
allele num: 8366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

DP
type: SiteQuality
SIO_000300: 1.139944e6

FS
type: SiteQuality
SIO_000300: 2.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.362397820163488e-3
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 1.674e0

DP
type: SiteQuality
SIO_000300: 1.166267e6

QD
type: SiteQuality
SIO_000300: 1.155e1

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

GenotypeQuality
all individuals: 1267
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.088176920895946e-5
allele num: 14108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.904e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 1.251271e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

QD
type: SiteQuality
SIO_000300: 1.122e1

GenotypeQuality
all individuals: 545
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61742
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.463054187192118e-3
allele num: 812
num of homozygotes: 1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.942e0

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.62e1

DP
type: SiteQuality
SIO_000300: 1.29526e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.144164759725401e-4
allele num: 8740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.596e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 1.317796e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 322
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.680919294494922e-5
allele num: 14968
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

MQRankSum
type: SiteQuality
SIO_000300: -1.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 1.335746e6

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.221689413500554e-5
allele num: 10844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557438325442313e-5
allele num: 64208
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15266
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

DP
type: SiteQuality
SIO_000300: 1.354845e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 3.726e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

GenotypeQuality
all individuals: 290
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.201324990798675e-5
allele num: 10868
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

DP
type: SiteQuality
SIO_000300: 1.357479e6

FS
type: SiteQuality
SIO_000300: 1.2087e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.906e0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

GenotypeQuality
all individuals: 635
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536523155403952e-5
allele num: 65082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15610
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

DP
type: SiteQuality
SIO_000300: 1.384998e6

VQSLOD
type: SiteQuality
SIO_000300: -2.616e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 2.738e1

FS
type: SiteQuality
SIO_000300: 1.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535768037595602e-5
allele num: 65114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.059e0

VQSLOD
type: SiteQuality
SIO_000300: -2.808e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

DP
type: SiteQuality
SIO_000300: 1.383773e6

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.07607124180996e-5
allele num: 65018
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.235e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: -2.872e0

FS
type: SiteQuality
SIO_000300: 1.599e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.051e0

DP
type: SiteQuality
SIO_000300: 1.381098e6

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538792970793709e-5
allele num: 64986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.343e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQRankSum
type: SiteQuality
SIO_000300: -7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 5.201e0

DP
type: SiteQuality
SIO_000300: 1.380635e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64752
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.102049812651532e-4
allele num: 9074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.917e0

DP
type: SiteQuality
SIO_000300: 1.376075e6

VQSLOD
type: SiteQuality
SIO_000300: -2.485e0

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.485e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.599e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 7.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.107174490699734e-4
allele num: 9032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.225e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -5.626e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 1.831e1

DP
type: SiteQuality
SIO_000300: 1.369521e6

GenotypeQuality
all individuals: 598
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10662
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.317696666227434e-4
allele num: 15178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.34201e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.265005662514156e-4
allele num: 8830
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.333319e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.166962249809982e-5
allele num: 63152
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.309066843150232e-4
allele num: 15110
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.209774981853375e-4
allele num: 8266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.839833396440742e-4
allele num: 10564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

DP
type: SiteQuality
SIO_000300: 1.333319e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.081081081081081e-4
allele num: 9250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 2.491e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

QD
type: SiteQuality
SIO_000300: 4.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.190865e6

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.92722787542399e-5
allele num: 51888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13156
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.825006825006825e-4
allele num: 7326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 9.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

DP
type: SiteQuality
SIO_000300: 9.86343e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeQuality
all individuals: 1084
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51074
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.773155851358847e-4
allele num: 7212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.355e0

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 9.60609e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 6.112e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 197
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.37324910738808e-4
allele num: 7282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.10204e5

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 2.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

GenotypeQuality
all individuals: 1409
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.901863826550019e-4
allele num: 5258
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.403705783267827e-4
allele num: 7124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.912644405760406e-5
allele num: 12638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.079468037367927e-5
allele num: 49026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.469e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.046e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.8628e5

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

GenotypeQuality
all individuals: 293
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.970667941973537e-5
allele num: 12546
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.476e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.63851e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.303e0

QD
type: SiteQuality
SIO_000300: 1.022e1

GenotypeQuality
all individuals: 198
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.767408978437611e-4
allele num: 5658
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 8.26666e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

FS
type: SiteQuality
SIO_000300: 4.539e0

QD
type: SiteQuality
SIO_000300: 1.375e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 854
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 3.17359568390987e-4
allele num: 6302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45028
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.95434e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 1977
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44642
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.78931413414172e-4
allele num: 5278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.88498e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

QD
type: SiteQuality
SIO_000300: 1.682e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.281021897810219e-4
allele num: 4384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.676e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.914e0

FS
type: SiteQuality
SIO_000300: 5.563e0

DP
type: SiteQuality
SIO_000300: 7.17748e5

QD
type: SiteQuality
SIO_000300: 3.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 882
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 7.0914e5

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

QD
type: SiteQuality
SIO_000300: 8.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 1135
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.575821359934108e-5
allele num: 65562
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14112
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

DP
type: SiteQuality
SIO_000300: 2.139362e6

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 4.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 2251
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.504e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 5.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.141734e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.91e0

GenotypeQuality
all individuals: 7970
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.848376934666484e-5
allele num: 14602
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.447e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.153582e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

GenotypeQuality
all individuals: 28897
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.026061974143238e-3
allele num: 9746
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.325e0

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 2.155188e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 934
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14924
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.823597349705185e-4
allele num: 65804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.461e1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 2.162818e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0