16-18871010-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871010
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871010
    reference: chr 16
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.837T>C
  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.3821T>C
  hgvsp: ENSP00000402515.2:p.Leu1274Pro
  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.3821T>C
  hgvsp: ENSP00000374118.3:p.Leu1274Pro
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2113T>C
  hgvsp: ENSP00000455861.2:p.Leu705Pro
  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.3491T>C
  hgvsp: ENSP00000456259.1:p.Leu1164Pro
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1274Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

16-18871015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871015
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871015
    reference: chr 16
allele count: 1
allele frequency: 8.437252155717926e-6
allele num: 118522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.3816A>G
  hgvsp: ENST00000446231.2:c.3816A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.832A>G
  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.3816A>G
  hgvsp: ENST00000389467.3:c.3816A>G(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.3486A>G
  hgvsp: ENST00000565324.1:c.3486A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2108A>G
  hgvsp: ENST00000563235.1:c.2108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys1272Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

16-18871024-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871024
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871024
    reference: chr 16
allele count: 1
allele frequency: 8.520790729379687e-6
allele num: 117360
alternate allele: C
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.3807C>G
  hgvsp: ENSP00000402515.2:p.Asp1269Glu
  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.3477C>G
  hgvsp: ENSP00000456259.1:p.Asp1159Glu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.823C>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2099C>G
  hgvsp: ENSP00000455861.2:p.Asp700Glu
  variant of: http://identifiers.org/hgnc/30045
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.3807C>G
  hgvsp: ENSP00000374118.3:p.Asp1269Glu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp1269Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-18871045-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871045
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871045
    reference: chr 16
allele count: 2
allele frequency: 1.749750660530874e-5
allele num: 114302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2098-20G>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.3806-20G>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.3476-20G>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.822-20G>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.3806-20G>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

16-18871045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871045
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871045
    reference: chr 16
allele count: 48
allele frequency: 4.199401585274098e-4
allele num: 114302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2098-20G>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.3476-20G>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.822-20G>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.3806-20G>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.3806-20G>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35041
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-18871046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871046
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871046
    reference: chr 16
allele count: 4
allele frequency: 3.50428398717432e-5
allele num: 114146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.822-21C>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.3806-21C>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.3806-21C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2098-21C>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.3476-21C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34491
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-18871049-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871049
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871049
    reference: chr 16
allele count: 1
allele frequency: 8.809175637343858e-6
allele num: 113518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.822-24T>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.3476-24T>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.3806-24T>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2098-24T>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.3806-24T>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

16-18871056-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871056
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871055
    reference: chr 16
allele count: 1
allele frequency: 8.940225651295439e-6
allele num: 111854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.822-32delG
  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.3476-32delG
  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.3806-32delG
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2098-32delG
  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.3806-32delG
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-18871059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871059
    reference: chr 16
allele count: 12
allele frequency: 1.08375629933349e-4
allele num: 110726
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.3806-34A>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.3806-34A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2098-34A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.822-34A>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.3476-34A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12318
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22251
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

16-18871063-CTTTTATTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871063
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871055
    reference: chr 16
allele count: 209
allele frequency: 1.911538742957489e-3
allele num: 109336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  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
  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
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20001
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 2.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: CTTTTATTA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-18871071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871071
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871071
    reference: chr 16
allele count: 1
allele frequency: 9.535251826000725e-6
allele num: 104874
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.3476-46T>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.3806-46T>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.3806-46T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.822-46T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2098-46T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7092
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

16-18871948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871948
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871948
    reference: chr 16
allele count: 1
allele frequency: 5.115089514066496e-5
allele num: 19550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+41G>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.3805+41G>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+41G>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.3805+41G>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.3475+41G>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

16-18871953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871953
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871953
    reference: chr 16
allele count: 13
allele frequency: 6.572959854383659e-4
allele num: 19778
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.3475+36G>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.3805+36G>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.3805+36G>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+36G>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+36G>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12880
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33137
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8815
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 14
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

16-18871961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871961
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 20352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+28T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+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.3805+28T>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.3805+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.3475+28T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29625
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

16-18871965-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871965
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871965
    reference: chr 16
allele count: 1
allele frequency: 4.794323520951194e-5
allele num: 20858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+24G>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.3805+24G>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.3805+24G>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.3475+24G>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+24G>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

16-18871968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871968
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871968
    reference: chr 16
allele count: 1
allele frequency: 4.678143712574851e-5
allele num: 21376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+21A>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.3805+21A>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.3805+21A>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.3475+21A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+21A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21740
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-18871969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871969
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871969
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+20T>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.3805+20T>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.3805+20T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+20T>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.3475+20T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24658
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-18871975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871975
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871975
    reference: chr 16
allele count: 3
allele frequency: 1.280300443837487e-4
allele num: 23432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+14T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+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.3805+14T>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.3475+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.3805+14T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29486
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-18871979-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871979
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871979
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 25064
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.3475+10A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821+10A>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.3805+10A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097+10A>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.3805+10A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32035
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

16-18871985-A-ATACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18871985
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18871989
    reference: chr 16
allele count: 4
allele frequency: 1.377695116070813e-4
allele num: 29034
alternate allele: ATACC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.821_821+3dupGGTA
  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.3805_3805+3dupGGTA
  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.3805_3805+3dupGGTA
  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.3475_3475+3dupGGTA
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2097_2097+3dupGGTA
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
hgvs: c.3805_3805+3dupGGTA
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

16-18872001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872001
    reference: chr 16
allele count: 1
allele frequency: 2.465483234714004e-5
allele num: 40560
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.3793A>G
  hgvsp: ENSP00000374118.3:p.Lys1265Glu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2085A>G
  hgvsp: ENSP00000455861.2:p.Lys696Glu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.809A>G
  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.3463A>G
  hgvsp: ENSP00000456259.1:p.Lys1155Glu
  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.3793A>G
  hgvsp: ENSP00000402515.2:p.Lys1265Glu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33993
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11103
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33318
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys1265Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-18872005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872005
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872005
    reference: chr 16
allele count: 4
allele frequency: 9.010226607199171e-5
allele num: 44394
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.3459A>G
  hgvsp: ENST00000565324.1:c.3459A>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.3789A>G
  hgvsp: ENST00000446231.2:c.3789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.805A>G
  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.3789A>G
  hgvsp: ENST00000389467.3:c.3789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2081A>G
  hgvsp: ENST00000563235.1:c.2081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1263Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-18872016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872016
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872016
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 53514
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.3778C>T
  hgvsp: ENSP00000402515.2:p.Leu1260Phe
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2070C>T
  hgvsp: ENSP00000455861.2:p.Leu691Phe
  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.3778C>T
  hgvsp: ENSP00000374118.3:p.Leu1260Phe
  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.3448C>T
  hgvsp: ENSP00000456259.1:p.Leu1150Phe
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.794C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29375
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1260Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

16-18872017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872017
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872017
    reference: chr 16
allele count: 3
allele frequency: 5.536894171496069e-5
allele num: 54182
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.3447A>G
  hgvsp: ENST00000565324.1:c.3447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2069A>G
  hgvsp: ENST00000563235.1:c.2069A>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.3777A>G
  hgvsp: ENST00000446231.2:c.3777A>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.3777A>G
  hgvsp: ENST00000389467.3:c.3777A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.793A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Leu1259Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

16-18872021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872021
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872021
    reference: chr 16
allele count: 4
allele frequency: 7.023951675212475e-5
allele num: 56948
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.3773A>G
  hgvsp: ENSP00000374118.3:p.Asn1258Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2065A>G
  hgvsp: ENSP00000455861.2:p.Asn689Ser
  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.3773A>G
  hgvsp: ENSP00000402515.2:p.Asn1258Ser
  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.3443A>G
  hgvsp: ENSP00000456259.1:p.Asn1148Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.789A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28003
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn1258Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

16-18872027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872027
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872027
    reference: chr 16
allele count: 1
allele frequency: 1.68321831341525e-5
allele num: 59410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.3767A>G
  hgvsp: ENSP00000402515.2:p.Asn1256Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.783A>G
  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.3767A>G
  hgvsp: ENSP00000374118.3:p.Asn1256Ser
  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.3437A>G
  hgvsp: ENSP00000456259.1:p.Asn1146Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2059A>G
  hgvsp: ENSP00000455861.2:p.Asn687Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1256Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

16-18872029-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872029
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872029
    reference: chr 16
allele count: 1
allele frequency: 1.665722757104307e-5
allele num: 60034
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.3435A>T
  hgvsp: ENSP00000456259.1:p.Glu1145Asp
  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.3765A>T
  hgvsp: ENSP00000402515.2:p.Glu1255Asp
  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.3765A>T
  hgvsp: ENSP00000374118.3:p.Glu1255Asp
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.781A>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2057A>T
  hgvsp: ENSP00000455861.2:p.Glu686Asp
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26869
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1255Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-18872035-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872035
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872035
    reference: chr 16
allele count: 1
allele frequency: 1.626651050816579e-5
allele num: 61476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.3759A>G
  hgvsp: ENST00000389467.3:c.3759A>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.3759A>G
  hgvsp: ENST00000446231.2:c.3759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2051A>G
  hgvsp: ENST00000563235.1:c.2051A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.775A>G
  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.3429A>G
  hgvsp: ENST00000565324.1:c.3429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26127
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1253Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-18872047-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872047
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872047
    reference: chr 16
allele count: 1
allele frequency: 1.596169193934557e-5
allele num: 62650
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.3747A>G
  hgvsp: ENST00000446231.2:c.3747A>G(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.3417A>G
  hgvsp: ENST00000565324.1:c.3417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2039A>G
  hgvsp: ENST00000563235.1:c.2039A>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.3747A>G
  hgvsp: ENST00000389467.3:c.3747A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.763A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1249Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-18872050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872050
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872050
    reference: chr 16
allele count: 10993
allele frequency: 1.618283527160312e-1
allele num: 67930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2036G>A
  hgvsp: ENST00000563235.1:c.2036G>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.3744G>A
  hgvsp: ENST00000389467.3:c.3744G>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.3744G>A
  hgvsp: ENST00000446231.2:c.3744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.760G>A
  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.3414G>A
  hgvsp: ENST00000565324.1:c.3414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20260
  bin: 7.5e0
  variant carriers: 1698
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 1.25e1
  variant carriers: 2860
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 2.75e1
  variant carriers: 612
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 14118
  bin: 2.25e1
  variant carriers: 1388
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.5e0
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 1.75e1
  variant carriers: 2452
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 9.75e1
  variant carriers: 1056
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.75e1
  variant carriers: 442
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.75e1
  variant carriers: 227
genotype quality: GenotypeQuality
  all individuals: 15541
  bin: 6.25e1
  variant carriers: 351
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.75e1
  variant carriers: 360
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.75e1
  variant carriers: 350
genotype quality: GenotypeQuality
  all individuals: 19217
  bin: 2.25e1
  variant carriers: 308
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 323
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 5.25e1
  variant carriers: 284
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 6.75e1
  variant carriers: 452
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 2.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.75e1
  variant carriers: 196
hgvs: p.Gln1248Gln
num of homozygotes: 624
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

16-18872051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872051
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872051
    reference: chr 16
allele count: 1
allele frequency: 1.571240022625856e-5
allele num: 63644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2035A>G
  hgvsp: ENSP00000455861.2:p.Gln679Arg
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.759A>G
  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.3743A>G
  hgvsp: ENSP00000402515.2:p.Gln1248Arg
  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.3413A>G
  hgvsp: ENSP00000456259.1:p.Gln1138Arg
  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.3743A>G
  hgvsp: ENSP00000374118.3:p.Gln1248Arg
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13842
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln1248Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

16-18872052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872052
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872052
    reference: chr 16
allele count: 1
allele frequency: 1.579329732461543e-5
allele num: 63318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.3742C>T
  hgvsp: ENSP00000374118.3:p.Gln1248Ter
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.758C>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2034C>T
  hgvsp: ENSP00000455861.2:p.Gln679Ter
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000456259
  ensembl transcript: ENST00000565324
  gene symbol: SMG1
  hgvsc: ENST00000565324.1:c.3412C>T
  hgvsp: ENSP00000456259.1:p.Gln1138Ter
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.3742C>T
  hgvsp: ENSP00000402515.2:p.Gln1248Ter
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln1248Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

16-18872055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872055
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872055
    reference: chr 16
allele count: 6
allele frequency: 9.618467457518435e-5
allele num: 62380
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.3739G>A
  hgvsp: ENSP00000374118.3:p.Glu1247Lys
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2031G>A
  hgvsp: ENSP00000455861.2:p.Glu678Lys
  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.3739G>A
  hgvsp: ENSP00000402515.2:p.Glu1247Lys
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.755G>A
  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.3409G>A
  hgvsp: ENSP00000456259.1:p.Glu1137Lys
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu1247Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

16-18872056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872056
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872056
    reference: chr 16
allele count: 7
allele frequency: 1.130052951052564e-4
allele num: 61944
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.3408C>T
  hgvsp: ENST00000565324.1:c.3408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2030C>T
  hgvsp: ENST00000563235.1:c.2030C>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.3738C>T
  hgvsp: ENST00000446231.2:c.3738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.754C>T
  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.3738C>T
  hgvsp: ENST00000389467.3:c.3738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23987
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1246Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-18872063-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872063
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872063
    reference: chr 16
allele count: 1
allele frequency: 1.678077594307961e-5
allele num: 59592
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.3401A>C
  hgvsp: ENSP00000456259.1:p.Glu1134Ala
  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.3731A>C
  hgvsp: ENSP00000402515.2:p.Glu1244Ala
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.747A>C
  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.3731A>C
  hgvsp: ENSP00000374118.3:p.Glu1244Ala
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2023A>C
  hgvsp: ENSP00000455861.2:p.Glu675Ala
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1244Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

16-18872064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872064
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872064
    reference: chr 16
allele count: 1
allele frequency: 1.683558368968652e-5
allele num: 59398
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.3730G>A
  hgvsp: ENSP00000402515.2:p.Glu1244Lys
  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.3400G>A
  hgvsp: ENSP00000456259.1:p.Glu1134Lys
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.746G>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2022G>A
  hgvsp: ENSP00000455861.2:p.Glu675Lys
  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.3730G>A
  hgvsp: ENSP00000374118.3:p.Glu1244Lys
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Glu1244Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-18872065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872065
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872065
    reference: chr 16
allele count: 3
allele frequency: 5.070479667376534e-5
allele num: 59166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2021T>C
  hgvsp: ENST00000563235.1:c.2021T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.745T>C
  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.3399T>C
  hgvsp: ENST00000565324.1:c.3399T>C(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.3729T>C
  hgvsp: ENST00000389467.3:c.3729T>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.3729T>C
  hgvsp: ENST00000446231.2:c.3729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1243Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/16-18872067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872067
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872067
    reference: chr 16
allele count: 1
allele frequency: 1.725744658820281e-5
allele num: 57946
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.3727G>T
  hgvsp: ENSP00000402515.2:p.Val1243Phe
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.743G>T
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2019G>T
  hgvsp: ENSP00000455861.2:p.Val674Phe
  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.3727G>T
  hgvsp: ENSP00000374118.3:p.Val1243Phe
  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.3397G>T
  hgvsp: ENSP00000456259.1:p.Val1133Phe
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24686
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val1243Phe
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

16-18872078-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872078
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872078
    reference: chr 16
allele count: 1
allele frequency: 1.840807009793093e-5
allele num: 54324
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.3386C>A
  hgvsp: ENSP00000456259.1:p.Ser1129Tyr
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.732C>A
  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.3716C>A
  hgvsp: ENSP00000374118.3:p.Ser1239Tyr
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2008C>A
  hgvsp: ENSP00000455861.2:p.Ser670Tyr
  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.3716C>A
  hgvsp: ENSP00000402515.2:p.Ser1239Tyr
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7079
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1239Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-18872079-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872079
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872079
    reference: chr 16
allele count: 1
allele frequency: 1.857286133501727e-5
allele num: 53842
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.3385T>A
  hgvsp: ENSP00000456259.1:p.Ser1129Thr
  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.3715T>A
  hgvsp: ENSP00000402515.2:p.Ser1239Thr
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2007T>A
  hgvsp: ENSP00000455861.2:p.Ser670Thr
  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.3715T>A
  hgvsp: ENSP00000374118.3:p.Ser1239Thr
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.731T>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1239Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

16-18872086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872086
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872086
    reference: chr 16
allele count: 1
allele frequency: 1.994654326405234e-5
allele num: 50134
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.3378C>T
  hgvsp: ENST00000565324.1:c.3378C>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.3708C>T
  hgvsp: ENST00000389467.3:c.3708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.2000C>T
  hgvsp: ENST00000563235.1:c.2000C>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.3708C>T
  hgvsp: ENST00000446231.2:c.3708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.724C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser1236Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

16-18872089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872089
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872089
    reference: chr 16
allele count: 1
allele frequency: 2.034256885959559e-5
allele num: 49158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1997C>T
  hgvsp: ENST00000563235.1:c.1997C>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.3705C>T
  hgvsp: ENST00000389467.3:c.3705C>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.3375C>T
  hgvsp: ENST00000565324.1:c.3375C>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.3705C>T
  hgvsp: ENST00000446231.2:c.3705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.721C>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1235Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

16-18872098-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872098
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872098
    reference: chr 16
allele count: 1
allele frequency: 2.25713253882268e-5
allele num: 44304
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.3696A>T
  hgvsp: ENSP00000374118.3:p.Lys1232Asn
  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.3366A>T
  hgvsp: ENSP00000456259.1:p.Lys1122Asn
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1988A>T
  hgvsp: ENSP00000455861.2:p.Lys663Asn
  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.3696A>T
  hgvsp: ENSP00000402515.2:p.Lys1232Asn
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.712A>T
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28148
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys1232Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

16-18872133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872133
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872133
    reference: chr 16
allele count: 2
allele frequency: 7.064641469445426e-5
allele num: 28310
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.3696-35A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1988-35A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.677A>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.3366-35A>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.3696-35A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

16-18872138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872138
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872138
    reference: chr 16
allele count: 5
allele frequency: 2.013044528544971e-4
allele num: 24838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.3696-40G>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1988-40G>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.672G>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.3366-40G>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.3696-40G>C
  variant of: http://identifiers.org/hgnc/30045
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19974
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

16-18872147-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18872147
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18872147
    reference: chr 16
allele count: 1
allele frequency: 5.242738806752648e-5
allele num: 19074
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.3696-49G>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1988-49G>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.3696-49G>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157106
  ensembl transcript: ENST00000569764
  gene symbol: SMG1
  hgvsc: ENST00000569764.1:n.663G>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.3366-49G>C
  variant of: http://identifiers.org/hgnc/30045
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18351
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

16-18874922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874922
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874922
    reference: chr 16
allele count: 2
allele frequency: 1.774087675412919e-5
allele num: 112734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+50G>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.3365+50G>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.3695+50G>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.3695+50G>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

16-18874934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874934
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874934
    reference: chr 16
allele count: 3
allele frequency: 2.660989888238425e-5
allele num: 112740
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.3695+38A>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.3695+38A>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.3365+38A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+38A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

16-18874945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874945
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874945
    reference: chr 16
allele count: 6
allele frequency: 5.321413367390379e-5
allele num: 112752
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.3695+27A>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.3695+27A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+27A>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.3365+27A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-18874948-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874948
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874948
    reference: chr 16
allele count: 1
allele frequency: 8.869022278983965e-6
allele num: 112752
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.3695+24T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+24T>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.3695+24T>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.3365+24T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

16-18874948-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874948
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874948
    reference: chr 16
allele count: 1
allele frequency: 8.869022278983965e-6
allele num: 112752
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.3695+24T>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+24T>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.3695+24T>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.3365+24T>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

16-18874952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874952
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874952
    reference: chr 16
allele count: 17
allele frequency: 1.507680300826564e-4
allele num: 112756
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.3695+20G>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.3365+20G>A
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+20G>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.3695+20G>A
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5925
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-18874957-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874957
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874957
    reference: chr 16
allele count: 1
allele frequency: 8.868550346760318e-6
allele num: 112758
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.3695+15T>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+15T>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.3695+15T>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.3365+15T>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-18874959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874959
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874959
    reference: chr 16
allele count: 1
allele frequency: 8.868550346760318e-6
allele num: 112758
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.3695+13T>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.3695+13T>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.3365+13T>C
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+13T>C
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

16-18874962-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874962
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874962
    reference: chr 16
allele count: 3
allele frequency: 2.660565104028095e-5
allele num: 112758
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.3695+10A>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.3365+10A>G
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1987+10A>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.3695+10A>G
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

16-18874978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874978
    reference: chr 16
allele count: 3
allele frequency: 2.660612295576289e-5
allele num: 112756
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000402515
  ensembl transcript: ENST00000446231
  gene symbol: SMG1
  hgvsc: ENST00000446231.2:c.3689A>G
  hgvsp: ENSP00000402515.2:p.Tyr1230Cys
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1981A>G
  hgvsp: ENSP00000455861.2:p.Tyr661Cys
  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.3689A>G
  hgvsp: ENSP00000374118.3:p.Tyr1230Cys
  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.3359A>G
  hgvsp: ENSP00000456259.1:p.Tyr1120Cys
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr1230Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

16-18874978-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874978
    reference: chr 16
allele count: 1
allele frequency: 8.868707651920962e-6
allele num: 112756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.3689A>C
  hgvsp: ENSP00000374118.3:p.Tyr1230Ser
  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.3689A>C
  hgvsp: ENSP00000402515.2:p.Tyr1230Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1981A>C
  hgvsp: ENSP00000455861.2:p.Tyr661Ser
  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.3359A>C
  hgvsp: ENSP00000456259.1:p.Tyr1120Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr1230Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-18874980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874980
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874980
    reference: chr 16
allele count: 5
allele frequency: 4.434275173380159e-5
allele num: 112758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.3687C>T
  hgvsp: ENST00000389467.3:c.3687C>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.3687C>T
  hgvsp: ENST00000446231.2:c.3687C>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.3357C>T
  hgvsp: ENST00000565324.1:c.3357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1979C>T
  hgvsp: ENST00000563235.1:c.1979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38873
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1229Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-18874981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18874981
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18874981
    reference: chr 16
allele count: 21
allele frequency: 1.862395572819667e-4
allele num: 112758
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.3356A>G
  hgvsp: ENSP00000456259.1:p.Asn1119Ser
  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.3686A>G
  hgvsp: ENSP00000402515.2:p.Asn1229Ser
  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.3686A>G
  hgvsp: ENSP00000374118.3:p.Asn1229Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1978A>G
  hgvsp: ENSP00000455861.2:p.Asn660Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn1229Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

16-18875004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875004
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875004
    reference: chr 16
allele count: 2
allele frequency: 1.773772992532416e-5
allele num: 112754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1955C>T
  hgvsp: ENST00000563235.1:c.1955C>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.3333C>T
  hgvsp: ENST00000565324.1:c.3333C>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.3663C>T
  hgvsp: ENST00000446231.2:c.3663C>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.3663C>T
  hgvsp: ENST00000389467.3:c.3663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1221Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

16-18875012-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875012
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875012
    reference: chr 16
allele count: 2
allele frequency: 1.773772992532416e-5
allele num: 112754
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.3655A>T
  hgvsp: ENSP00000402515.2:p.Ser1219Cys
  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.3655A>T
  hgvsp: ENSP00000374118.3:p.Ser1219Cys
  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.3325A>T
  hgvsp: ENSP00000456259.1:p.Ser1109Cys
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1947A>T
  hgvsp: ENSP00000455861.2:p.Ser650Cys
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5875
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser1219Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-18875016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875016
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875016
    reference: chr 16
allele count: 1
allele frequency: 8.868707651920962e-6
allele num: 112756
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.3321C>T
  hgvsp: ENST00000565324.1:c.3321C>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.3651C>T
  hgvsp: ENST00000446231.2:c.3651C>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.3651C>T
  hgvsp: ENST00000389467.3:c.3651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1943C>T
  hgvsp: ENST00000563235.1:c.1943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1217Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

16-18875022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875022
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875022
    reference: chr 16
allele count: 1
allele frequency: 8.868707651920962e-6
allele num: 112756
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.3315G>A
  hgvsp: ENST00000565324.1:c.3315G>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.3645G>A
  hgvsp: ENST00000446231.2:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1937G>A
  hgvsp: ENST00000563235.1:c.1937G>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.3645G>A
  hgvsp: ENST00000389467.3:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1215Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

16-18875035-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875035
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875035
    reference: chr 16
allele count: 1
allele frequency: 8.869966294128083e-6
allele num: 112740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1924A>G
  hgvsp: ENSP00000455861.2:p.His642Arg
  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.3302A>G
  hgvsp: ENSP00000456259.1:p.His1101Arg
  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.3632A>G
  hgvsp: ENSP00000402515.2:p.His1211Arg
  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.3632A>G
  hgvsp: ENSP00000374118.3:p.His1211Arg
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His1211Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-18875037-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875037
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875037
    reference: chr 16
allele count: 4
allele frequency: 3.54804945980947e-5
allele num: 112738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1922C>G
  hgvsp: ENSP00000455861.2:p.Ile641Met
  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.3630C>G
  hgvsp: ENSP00000402515.2:p.Ile1210Met
  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.3300C>G
  hgvsp: ENSP00000456259.1:p.Ile1100Met
  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.3630C>G
  hgvsp: ENSP00000374118.3:p.Ile1210Met
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1210Met
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/16-18875042-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875042
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875042
    reference: chr 16
allele count: 2991
allele frequency: 2.653101050241272e-2
allele num: 112736
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.3295G>T
  hgvsp: ENSP00000456259.1:p.Ala1099Ser
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1917G>T
  hgvsp: ENSP00000455861.2:p.Ala640Ser
  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.3625G>T
  hgvsp: ENSP00000374118.3:p.Ala1209Ser
  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.3625G>T
  hgvsp: ENSP00000402515.2:p.Ala1209Ser
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27138
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 9.75e1
  variant carriers: 988
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Ala1209Ser
num of homozygotes: 54
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-18875043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875043
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875043
    reference: chr 16
allele count: 1
allele frequency: 8.870438377064595e-6
allele num: 112734
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.3294C>T
  hgvsp: ENST00000565324.1:c.3294C>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.3624C>T
  hgvsp: ENST00000389467.3:c.3624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1916C>T
  hgvsp: ENST00000563235.1:c.1916C>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.3624C>T
  hgvsp: ENST00000446231.2:c.3624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6991
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn1208Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

16-18875052-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875052
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875052
    reference: chr 16
allele count: 1
allele frequency: 8.872169777840869e-6
allele num: 112712
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.3615A>T
  hgvsp: ENSP00000402515.2:p.Glu1205Asp
  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.3615A>T
  hgvsp: ENSP00000374118.3:p.Glu1205Asp
  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.3285A>T
  hgvsp: ENSP00000456259.1:p.Glu1095Asp
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1907A>T
  hgvsp: ENSP00000455861.2:p.Glu636Asp
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1205Asp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-18875056-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875056
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875056
    reference: chr 16
allele count: 1
allele frequency: 8.872642095363157e-6
allele num: 112706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1903A>T
  hgvsp: ENSP00000455861.2:p.Gln635Leu
  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.3611A>T
  hgvsp: ENSP00000374118.3:p.Gln1204Leu
  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.3611A>T
  hgvsp: ENSP00000402515.2:p.Gln1204Leu
  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.3281A>T
  hgvsp: ENSP00000456259.1:p.Gln1094Leu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln1204Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/16-18875058-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875058
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875058
    reference: chr 16
allele count: 1
allele frequency: 8.873901854645487e-6
allele num: 112690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000374118
  ensembl transcript: ENST00000389467
  gene symbol: SMG1
  hgvsc: ENST00000389467.3:c.3609G>T
  hgvsp: ENST00000389467.3:c.3609G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1901G>T
  hgvsp: ENST00000563235.1:c.1901G>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.3609G>T
  hgvsp: ENST00000446231.2:c.3609G>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.3279G>T
  hgvsp: ENST00000565324.1:c.3279G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1203Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

16-18875061-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875061
    reference: chr 16
allele count: 1
allele frequency: 8.873744365172327e-6
allele num: 112692
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.3606T>A
  hgvsp: ENST00000389467.3:c.3606T>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.3276T>A
  hgvsp: ENST00000565324.1:c.3276T>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.3606T>A
  hgvsp: ENST00000446231.2:c.3606T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1898T>A
  hgvsp: ENST00000563235.1:c.1898T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1202Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

16-18875066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875066
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875066
    reference: chr 16
allele count: 2
allele frequency: 1.775505131209829e-5
allele num: 112644
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.3601G>A
  hgvsp: ENSP00000374118.3:p.Ala1201Thr
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1893G>A
  hgvsp: ENSP00000455861.2:p.Ala632Thr
  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.3271G>A
  hgvsp: ENSP00000456259.1:p.Ala1091Thr
  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.3601G>A
  hgvsp: ENSP00000402515.2:p.Ala1201Thr
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1201Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-18875070-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875070
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875070
    reference: chr 16
allele count: 4
allele frequency: 3.552902721523484e-5
allele num: 112584
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.3267T>G
  hgvsp: ENSP00000456259.1:p.Asp1089Glu
  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.3597T>G
  hgvsp: ENSP00000374118.3:p.Asp1199Glu
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1889T>G
  hgvsp: ENSP00000455861.2:p.Asp630Glu
  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.3597T>G
  hgvsp: ENSP00000402515.2:p.Asp1199Glu
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp1199Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-18875070-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18875070
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 18875070
    reference: chr 16
allele count: 1
allele frequency: 8.882256803808711e-6
allele num: 112584
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.3597T>C
  hgvsp: ENST00000389467.3:c.3597T>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.3597T>C
  hgvsp: ENST00000446231.2:c.3597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157106
  ensembl protein: ENSP00000455861
  ensembl transcript: ENST00000563235
  gene symbol: SMG1
  hgvsc: ENST00000563235.1:c.1889T>C
  hgvsp: ENST00000563235.1:c.1889T>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.3267T>C
  hgvsp: ENST00000565324.1:c.3267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30045
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp1199Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

GenotypeQuality
all individuals: 2341
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3359
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50230
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.676e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.428e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 1.454386e6

MQ
type: SiteQuality
SIO_000300: 5.052e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519803033526855e-5
allele num: 65798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.277e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.447945e6

VQSLOD
type: SiteQuality
SIO_000300: -1.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.169e0

QD
type: SiteQuality
SIO_000300: 7.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.427065e6

VQSLOD
type: SiteQuality
SIO_000300: -4.773e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.231e1

QD
type: SiteQuality
SIO_000300: 8.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.115361849278793e-5
allele num: 64198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.302e1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 1.349534e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 9.75e1
variant carriers: 48

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.698027975949407e-4
allele num: 64198
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.107481559536354e-4
allele num: 9490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.342143906020558e-5
allele num: 13620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.530924678505818e-4
allele num: 6532
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.302e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 1.349534e6

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 364
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8197
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13582
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.109704641350211e-4
allele num: 9480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

DP
type: SiteQuality
SIO_000300: 1.341706e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.245e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

GenotypeQuality
all individuals: 37318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565778348416998e-5
allele num: 63866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 1.5529e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.311678e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.311e0

GenotypeQuality
all individuals: 4713
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583180292571718e-5
allele num: 63164
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.312e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 7.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 5.632e0

DP
type: SiteQuality
SIO_000300: 1.241431e6

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 2357
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 9.942004971002485e-4
allele num: 12070
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.939e0

VQSLOD
type: SiteQuality
SIO_000300: -1.137e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 1.414e0

QD
type: SiteQuality
SIO_000300: 1.072e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.265e1

DP
type: SiteQuality
SIO_000300: 1.211755e6

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2553
bin: 9.75e1
variant carriers: 213

European (Non-Finnish)
type: Population
allele count: 187
allele frequency: 3.008559109337795e-3
allele num: 62156
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.148227712137487e-4
allele num: 9310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.851280468991052e-3
allele num: 6482
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.484320557491289e-4
allele num: 11480
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.623844899438304e-4
allele num: 11038
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 5.881e0

MQ
type: SiteQuality
SIO_000300: 4.654e1

MQRankSum
type: SiteQuality
SIO_000300: -3.123e0

QD
type: SiteQuality
SIO_000300: 4.96e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.191987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 9.302325581395348e-5
allele num: 10750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.202e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.160932e6

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3121
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.886435331230284e-4
allele num: 1268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.68818e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.81e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 459
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.583949313621964e-3
allele num: 7576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.598784194528875e-4
allele num: 1316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.97e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.233e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 4.761e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.852e0

DP
type: SiteQuality
SIO_000300: 6.82289e5

GenotypeQuality
all individuals: 14377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1408
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.924e1

VQSLOD
type: SiteQuality
SIO_000300: -4.835e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.88e-2

DP
type: SiteQuality
SIO_000300: 7.12844e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.984e1

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.256597134958532e-4
allele num: 7958
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.691e1

FS
type: SiteQuality
SIO_000300: 1.4876e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.327e0

VQSLOD
type: SiteQuality
SIO_000300: -2.178e0

MQ
type: SiteQuality
SIO_000300: 4.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 7.38147e5

GenotypeQuality
all individuals: 680
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-3
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.083e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 7.5556e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.727e1

GenotypeQuality
all individuals: 3992
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.534e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.709e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 7.61942e5

MQ
type: SiteQuality
SIO_000300: 5.728e1

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.186721991701245e-4
allele num: 1928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.063557573256294e-4
allele num: 9692
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 8.02457e5

QD
type: SiteQuality
SIO_000300: 1.423e1

MQ
type: SiteQuality
SIO_000300: 4.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.176e0

FS
type: SiteQuality
SIO_000300: 3.404e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
all individuals: 834
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

QD
type: SiteQuality
SIO_000300: 1.388e1

VQSLOD
type: SiteQuality
SIO_000300: -8.922e-1

MQ
type: SiteQuality
SIO_000300: 5.257e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 8.29702e5

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

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

GenotypeQuality
all individuals: 3173
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.885191610156126e-5
allele num: 12682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.563791874554526e-4
allele num: 8418
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.811e1

VQSLOD
type: SiteQuality
SIO_000300: -2.663e0

DP
type: SiteQuality
SIO_000300: 8.80464e5

QD
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: -4.281e0

FS
type: SiteQuality
SIO_000300: 2.6467e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.503755633450175e-4
allele num: 3994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.246e0

FS
type: SiteQuality
SIO_000300: 6.701e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

DP
type: SiteQuality
SIO_000300: 9.77766e5

MQ
type: SiteQuality
SIO_000300: 5.394e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12719
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.053962900505902e-4
allele num: 9488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.734848484848485e-5
allele num: 21120
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 8.904719501335708e-4
allele num: 2246
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.009132e6

MQRankSum
type: SiteQuality
SIO_000300: -1.944e0

VQSLOD
type: SiteQuality
SIO_000300: -2.044e0

FS
type: SiteQuality
SIO_000300: 1.045e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQ
type: SiteQuality
SIO_000300: 5.134e1

QD
type: SiteQuality
SIO_000300: 3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
all individuals: 3174
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.078397e6

QD
type: SiteQuality
SIO_000300: 8.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

MQ
type: SiteQuality
SIO_000300: 4.757e1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

GenotypeQuality
all individuals: 349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3664
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 2.946954813359528e-4
allele num: 10180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26748
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 1.08338e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 3.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

MQ
type: SiteQuality
SIO_000300: 5.236e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.051688879486637e-5
allele num: 28362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3778
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.091653027823241e-4
allele num: 4888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.776e0

DP
type: SiteQuality
SIO_000300: 1.103367e6

VQSLOD
type: SiteQuality
SIO_000300: -1.959e0

FS
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 4.998e1

QD
type: SiteQuality
SIO_000300: 8.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 637
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 595
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.455795677799607e-4
allele num: 4072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3936
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: 5056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29854
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 1.120636e6

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: -1.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 1.642e1

GenotypeQuality
all individuals: 780
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30182
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.419743782969103e-5
allele num: 10616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.124539e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 4.835e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

GenotypeQuality
all individuals: 765
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3176
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.217296184286725e-5
allele num: 31082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.214e1

VQSLOD
type: SiteQuality
SIO_000300: -1.508e0

DP
type: SiteQuality
SIO_000300: 1.132939e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

FS
type: SiteQuality
SIO_000300: 4.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.138337936228973e-5
allele num: 31864
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 5.305e0

DP
type: SiteQuality
SIO_000300: 1.1365e6

QD
type: SiteQuality
SIO_000300: 1.844e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.807e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeQuality
all individuals: 1688
bin: 7.5e0
variant carriers: 154

GenotypeQuality
all individuals: 453
bin: 1.25e1
variant carriers: 202

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 379

GenotypeQuality
all individuals: 631
bin: 7.25e1
variant carriers: 413

GenotypeQuality
all individuals: 573
bin: 8.25e1
variant carriers: 409

GenotypeQuality
all individuals: 8320
bin: 9.75e1
variant carriers: 6966

European (Finnish)
type: Population
allele count: 552
allele frequency: 1.287313432835821e-1
allele num: 4288
num of homozygotes: 31

African
type: Population
allele count: 1330
allele frequency: 2.143778207607995e-1
allele num: 6204
num of homozygotes: 94

Latino
type: Population
allele count: 932
allele frequency: 1.810411810411811e-1
allele num: 5148
num of homozygotes: 30

South Asian
type: Population
allele count: 1950
allele frequency: 1.728416947349761e-1
allele num: 11282
num of homozygotes: 165

East Asian
type: Population
allele count: 572
allele frequency: 1.031373963216733e-1
allele num: 5546
num of homozygotes: 21

European (Non-Finnish)
type: Population
allele count: 5560
allele frequency: 1.592210767468499e-1
allele num: 34920
num of homozygotes: 273

Other
type: Population
allele count: 97
allele frequency: 1.789667896678967e-1
allele num: 542
num of homozygotes: 10

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.909e-1

QD
type: SiteQuality
SIO_000300: 9.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.08e-2

DP
type: SiteQuality
SIO_000300: 1.298983e6

MQRankSum
type: SiteQuality
SIO_000300: -2.331e0

MQ
type: SiteQuality
SIO_000300: 4.709e1

FS
type: SiteQuality
SIO_000300: 2.624e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

GenotypeQuality
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.174858634188778e-4
allele num: 4598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.09445e6

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.459419576979833e-4
allele num: 4066
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.27e0

MQ
type: SiteQuality
SIO_000300: 5.1e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.524e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.091405e6

GenotypeQuality
all individuals: 3654
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.248201438848921e-4
allele num: 4448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.639079606606049e-4
allele num: 10778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31766
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 7.325e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

MQ
type: SiteQuality
SIO_000300: 4.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.0813e6

GenotypeQuality
all individuals: 1888
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1039
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16859
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.28310502283105e-4
allele num: 4380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.30925339787749e-5
allele num: 10742
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.872966692486445e-4
allele num: 5164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.348803250587264e-5
allele num: 31502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.764290755116443e-4
allele num: 5668
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.804e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 4.838e1

MQRankSum
type: SiteQuality
SIO_000300: -1.303e0

FS
type: SiteQuality
SIO_000300: 4.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

DP
type: SiteQuality
SIO_000300: 1.07684e6

QD
type: SiteQuality
SIO_000300: 9.02e0

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.476876421531463e-5
allele num: 10552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 1.039874e6

VQSLOD
type: SiteQuality
SIO_000300: -1.878e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 5.261e1

FS
type: SiteQuality
SIO_000300: 8.913e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

QD
type: SiteQuality
SIO_000300: 1.589e1

GenotypeQuality
all individuals: 291
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.316969616558312e-5
allele num: 30148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e0

DP
type: SiteQuality
SIO_000300: 1.040485e6

MQ
type: SiteQuality
SIO_000300: 3.894e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e0

VQSLOD
type: SiteQuality
SIO_000300: -5.784e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 4.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 503
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30086
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.654688227856525e-5
allele num: 30054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.858045336306206e-4
allele num: 5382
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 4.607e1

FS
type: SiteQuality
SIO_000300: 9.119e0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

QD
type: SiteQuality
SIO_000300: 3.64e0

VQSLOD
type: SiteQuality
SIO_000300: -2.516e0

DP
type: SiteQuality
SIO_000300: 1.035337e6

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 963
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.595087315294569e-5
allele num: 10422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.504e1

FS
type: SiteQuality
SIO_000300: 1.871e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.098e0

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

DP
type: SiteQuality
SIO_000300: 1.018609e6

QD
type: SiteQuality
SIO_000300: 1.03e1

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

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.664614482556435e-5
allele num: 27288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

MQ
type: SiteQuality
SIO_000300: 4.993e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 7.173e0

DP
type: SiteQuality
SIO_000300: 9.66093e5

VQSLOD
type: SiteQuality
SIO_000300: -1.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
all individuals: 356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31643
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.696311081540623e-5
allele num: 27054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.839e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 9.57674e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.361e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

MQ
type: SiteQuality
SIO_000300: 5.035e1

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7584
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.016064257028112e-5
allele num: 24900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.799e0

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 9.13572e5

MQ
type: SiteQuality
SIO_000300: 5.239e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7299
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.016880211511084e-4
allele num: 9834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.012e0

VQSLOD
type: SiteQuality
SIO_000300: -2.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.23e-1

MQ
type: SiteQuality
SIO_000300: 4.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

DP
type: SiteQuality
SIO_000300: 9.03496e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.328e0

QD
type: SiteQuality
SIO_000300: 1.32e1

GenotypeQuality
all individuals: 1878
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1129
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.649432769202157e-5
allele num: 21508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

DP
type: SiteQuality
SIO_000300: 8.58316e5

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.835e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.468e0

MQ
type: SiteQuality
SIO_000300: 4.893e1

GenotypeQuality
all individuals: 1959
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.655903295247558e-4
allele num: 12078
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -4.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.78e-2

DP
type: SiteQuality
SIO_000300: 7.22478e5

FS
type: SiteQuality
SIO_000300: 9.584e0

MQ
type: SiteQuality
SIO_000300: 4.553e1

QD
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
all individuals: 7780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 1.428571428571429e-3
allele num: 2100
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.01276078590237e-4
allele num: 9874
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.228501228501228e-4
allele num: 8140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.29e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

DP
type: SiteQuality
SIO_000300: 7.04714e5

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQ
type: SiteQuality
SIO_000300: 4.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6830
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.621951219512195e-4
allele num: 1312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.91338e5

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.165e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.35e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62871754780286e-5
allele num: 61398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.22040517451794e-4
allele num: 8194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.246e0

DP
type: SiteQuality
SIO_000300: 1.871994e6

VQSLOD
type: SiteQuality
SIO_000300: -2.001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5932
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61398
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.660322108345535e-4
allele num: 8196
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

DP
type: SiteQuality
SIO_000300: 1.872361e6

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.41e0

MQ
type: SiteQuality
SIO_000300: 4.236e1

GenotypeQuality
all individuals: 1557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.142792000521138e-5
allele num: 61404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 1.533e1

MQ
type: SiteQuality
SIO_000300: 4.259e1

FS
type: SiteQuality
SIO_000300: 3.709e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 1.872596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.59e0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628558400104228e-5
allele num: 61404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.915e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

DP
type: SiteQuality
SIO_000300: 1.872614e6

MQ
type: SiteQuality
SIO_000300: 4.427e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.335e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

GenotypeQuality
all individuals: 6679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5924
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628558400104228e-5
allele num: 61404
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.915e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e0

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 1.872614e6

MQ
type: SiteQuality
SIO_000300: 4.427e1

GenotypeQuality
all individuals: 6679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.768368942157373e-4
allele num: 61408
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.44e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.398e0

FS
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.873341e6

MQ
type: SiteQuality
SIO_000300: 4.317e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.882e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

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

GenotypeQuality
all individuals: 5909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628452318916102e-5
allele num: 61408
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.871884e6

FS
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.926e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 4.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.349e0

VQSLOD
type: SiteQuality
SIO_000300: -2.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.265e1

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

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

GenotypeQuality
all individuals: 1531
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628452318916102e-5
allele num: 61408
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.927e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.1064e1

MQ
type: SiteQuality
SIO_000300: 4.206e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.128e0

DP
type: SiteQuality
SIO_000300: 1.871812e6

QD
type: SiteQuality
SIO_000300: 4.5e0

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

GenotypeQuality
all individuals: 5907
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 874
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61408
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.65764447695684e-4
allele num: 8202
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.885e1

FS
type: SiteQuality
SIO_000300: 5.6436e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

DP
type: SiteQuality
SIO_000300: 1.87189e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

MQRankSum
type: SiteQuality
SIO_000300: -2.898e0

MQ
type: SiteQuality
SIO_000300: 4.217e1

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

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

GenotypeQuality
all individuals: 5906
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.849796522382538e-4
allele num: 16218
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.449e0

QD
type: SiteQuality
SIO_000300: 1.385e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.871641e6

MQ
type: SiteQuality
SIO_000300: 3.993e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

FS
type: SiteQuality
SIO_000300: 1.828e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6681
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.871641e6

MQ
type: SiteQuality
SIO_000300: 3.993e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.449e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

FS
type: SiteQuality
SIO_000300: 1.828e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5903
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.513809275664408e-5
allele num: 61408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.922e0

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.594e0

VQSLOD
type: SiteQuality
SIO_000300: -2.266e0

QD
type: SiteQuality
SIO_000300: 1.296e1

DP
type: SiteQuality
SIO_000300: 1.871828e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 4.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38879
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 1.849894291754757e-3
allele num: 11352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQ
type: SiteQuality
SIO_000300: 4.179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 1.872965e6

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 1554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.453385672227674e-4
allele num: 8152
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.729e0

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

DP
type: SiteQuality
SIO_000300: 1.870531e6

VQSLOD
type: SiteQuality
SIO_000300: -1.677e0

QD
type: SiteQuality
SIO_000300: 1.183e1

MQ
type: SiteQuality
SIO_000300: 4.105e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.257010715565254e-5
allele num: 61406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.765e0

FS
type: SiteQuality
SIO_000300: 2.057e0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
SIO_000300: 3.831e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.870363e6

GenotypeQuality
all individuals: 5873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628452318916102e-5
allele num: 61408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.447e0

MQ
type: SiteQuality
SIO_000300: 3.796e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.863e0

FS
type: SiteQuality
SIO_000300: 1.578e0

DP
type: SiteQuality
SIO_000300: 1.870157e6

QD
type: SiteQuality
SIO_000300: 1.032e1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1525
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.818e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

FS
type: SiteQuality
SIO_000300: 1.406e0

DP
type: SiteQuality
SIO_000300: 1.869989e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.957e0

MQ
type: SiteQuality
SIO_000300: 4.21e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
all individuals: 38862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62877060394814e-5
allele num: 61396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.826e0

DP
type: SiteQuality
SIO_000300: 1.869601e6

QD
type: SiteQuality
SIO_000300: 1.403e1

MQ
type: SiteQuality
SIO_000300: 2.962e1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.526e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 4.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.457e0

GenotypeQuality
all individuals: 1555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.849796522382538e-4
allele num: 16218
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61396
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.084e1

DP
type: SiteQuality
SIO_000300: 1.869577e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

FS
type: SiteQuality
SIO_000300: 7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6106
bin: 9.75e1
variant carriers: 2935

European (Non-Finnish)
type: Population
allele count: 2197
allele frequency: 3.578292452522883e-2
allele num: 61398
num of homozygotes: 43

Latino
type: Population
allele count: 179
allele frequency: 1.577648510488278e-2
allele num: 11346
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 257
allele frequency: 3.904588271042236e-2
allele num: 6582
num of homozygotes: 3

Other
type: Population
allele count: 21
allele frequency: 2.494061757719715e-2
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 60
allele frequency: 7.361963190184049e-3
allele num: 8150
num of homozygotes: 1

South Asian
type: Population
allele count: 277
allele frequency: 1.707978788999877e-2
allele num: 16218
num of homozygotes: 6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

QD
type: SiteQuality
SIO_000300: 1.287e1

VQSLOD
type: SiteQuality
SIO_000300: -3.174e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.029e1

DP
type: SiteQuality
SIO_000300: 1.919052e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

GenotypeQuality
all individuals: 1606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.632e0

QD
type: SiteQuality
SIO_000300: 5.78e0

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 1.749981e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 3.008e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.498e0

GenotypeQuality
all individuals: 1593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.219809709685289e-4
allele num: 8198
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61386
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

FS
type: SiteQuality
SIO_000300: 3.153e0

DP
type: SiteQuality
SIO_000300: 1.749622e6

VQSLOD
type: SiteQuality
SIO_000300: -4.359e0

MQ
type: SiteQuality
SIO_000300: 2.977e1

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 6982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.749453e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.217e0

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.332e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

MQ
type: SiteQuality
SIO_000300: 2.994e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -3.967e0

GenotypeQuality
all individuals: 1585
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1603
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62940754741576e-5
allele num: 61372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 2.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.465999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

DP
type: SiteQuality
SIO_000300: 1.749022e6

VQSLOD
type: SiteQuality
SIO_000300: -4.182e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.277e0

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

GenotypeQuality
all individuals: 872
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40938
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629301355578728e-5
allele num: 61376
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.004e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.748813e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.755e0

VQSLOD
type: SiteQuality
SIO_000300: -4.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeQuality
all individuals: 6971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.457606291472106e-4
allele num: 8138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.52e0

DP
type: SiteQuality
SIO_000300: 1.747601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.101e1

MQ
type: SiteQuality
SIO_000300: 3.047e1

VQSLOD
type: SiteQuality
SIO_000300: -4.415e0

FS
type: SiteQuality
SIO_000300: 1.577e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

GenotypeQuality
all individuals: 1597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.523582751647205e-5
allele num: 61316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.746055e6

MQ
type: SiteQuality
SIO_000300: 3.034e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 2.041e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e0

VQSLOD
type: SiteQuality
SIO_000300: -4.047e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

QD
type: SiteQuality
SIO_000300: 1.489e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.224589762429586e-4
allele num: 8166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 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: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.041e0

DP
type: SiteQuality
SIO_000300: 1.746055e6

VQSLOD
type: SiteQuality
SIO_000300: -4.047e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e0

MQ
type: SiteQuality
SIO_000300: 3.034e1