15-82532789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532789
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532789
    reference: chr 15
allele count: 1
allele frequency: 1.22183666487464e-5
allele num: 81844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+822C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.486C>T
  hgvsp: ENST00000268206.7:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.333C>T
  hgvsp: ENST00000359445.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*224C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala162Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-82532792-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532792
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532792
    reference: chr 15
allele count: 1
allele frequency: 1.15826538176427e-5
allele num: 86336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.330G>T
  hgvsp: ENSP00000352418.3:p.Glu110Asp
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.483G>T
  hgvsp: ENSP00000268206.7:p.Glu161Asp
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*221G>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+819G>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32879
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 16766
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu161Asp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

15-82532798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532798
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532798
    reference: chr 15
allele count: 1
allele frequency: 1.061210629085661e-5
allele num: 94232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+813A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*215A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.324A>G
  hgvsp: ENST00000359445.3:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.477A>G
  hgvsp: ENST00000268206.7:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 515
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 323
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genotype quality: GenotypeQuality
  all individuals: 3286
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 576
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genotype quality: GenotypeQuality
  all individuals: 1159
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro159Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

15-82532799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532799
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532799
    reference: chr 15
allele count: 1
allele frequency: 1.045172348920337e-5
allele num: 95678
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.476C>T
  hgvsp: ENSP00000268206.7:p.Pro159Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.323C>T
  hgvsp: ENSP00000352418.3:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+812C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 126
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genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 341
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 37541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro159Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

15-82532818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532818
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532818
    reference: chr 15
allele count: 1
allele frequency: 8.94774516821761e-6
allele num: 111760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.304G>A
  hgvsp: ENSP00000352418.3:p.Val102Met
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.457G>A
  hgvsp: ENSP00000268206.7:p.Val153Met
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+793G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*195G>A
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43056
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val153Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

15-82532826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532826
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532826
    reference: chr 15
allele count: 2
allele frequency: 1.734996616756597e-5
allele num: 115274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.296G>A
  hgvsp: ENSP00000352418.3:p.Arg99His
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.449G>A
  hgvsp: ENSP00000268206.7:p.Arg150His
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+785G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*187G>A
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg150His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

15-82532827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532827
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532827
    reference: chr 15
allele count: 1
allele frequency: 8.632149577887885e-6
allele num: 115846
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.448C>T
  hgvsp: ENSP00000268206.7:p.Arg150Cys
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+784C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*186C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.295C>T
  hgvsp: ENSP00000352418.3:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg150Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

15-82532831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532831
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532831
    reference: chr 15
allele count: 1
allele frequency: 8.555637309423178e-6
allele num: 116882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*182T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.444T>C
  hgvsp: ENST00000268206.7:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+780T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.291T>C
  hgvsp: ENST00000359445.3:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile148Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

15-82532831-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532831
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532831
    reference: chr 15
allele count: 2
allele frequency: 1.711127461884636e-5
allele num: 116882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+780T>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.444T>A
  hgvsp: ENST00000268206.7:c.444T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*182T>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.291T>A
  hgvsp: ENST00000359445.3:c.291T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile148Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

15-82532835-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532835
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532835
    reference: chr 15
allele count: 1
allele frequency: 8.501955449753444e-6
allele num: 117620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.287A>T
  hgvsp: ENSP00000352418.3:p.Lys96Met
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.440A>T
  hgvsp: ENSP00000268206.7:p.Lys147Met
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+776A>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*178A>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys147Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

15-82532853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532853
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532853
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 119202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.269C>T
  hgvsp: ENSP00000352418.3:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+758C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.422C>T
  hgvsp: ENSP00000268206.7:p.Pro141Leu
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro141Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

15-82532854-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532854
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532854
    reference: chr 15
allele count: 5
allele frequency: 4.192942439286194e-5
allele num: 119248
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.421C>A
  hgvsp: ENSP00000268206.7:p.Pro141Thr
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+757C>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*159C>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.268C>A
  hgvsp: ENSP00000352418.3:p.Pro90Thr
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  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 quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro141Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

15-82532855-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532855
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532855
    reference: chr 15
allele count: 1
allele frequency: 8.382370198997468e-6
allele num: 119298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+756T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.420T>C
  hgvsp: ENST00000268206.7:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*158T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.267T>C
  hgvsp: ENST00000359445.3:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg140Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

15-82532856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532856
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532856
    reference: chr 15
allele count: 2
allele frequency: 1.676052561008313e-5
allele num: 119328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*157G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+755G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.266G>A
  hgvsp: ENSP00000352418.3:p.Arg89His
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.419G>A
  hgvsp: ENSP00000268206.7:p.Arg140His
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45526
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg140His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

15-82532857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532857
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532857
    reference: chr 15
allele count: 2
allele frequency: 1.675182176061647e-5
allele num: 119390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*156C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.265C>T
  hgvsp: ENSP00000352418.3:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.418C>T
  hgvsp: ENSP00000268206.7:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+754C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg140Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-82532866-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532866
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532865
    reference: chr 15
allele count: 1
allele frequency: 8.362182864214875e-6
allele num: 119586
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.408delT
  hgvsp: ENSP00000268206.7:p.Glu137LysfsTer7
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+744delT
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.255delT
  hgvsp: ENSP00000352418.3:p.Glu86LysfsTer7
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*146delT
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 45422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu137LysfsTer7
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CA
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/15-82532875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532875
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532875
    reference: chr 15
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.400G>T
  hgvsp: ENSP00000268206.7:p.Ala134Ser
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+736G>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.247G>T
  hgvsp: ENSP00000352418.3:p.Ala83Ser
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*138G>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala134Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

15-82532901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532901
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532901
    reference: chr 15
allele count: 2
allele frequency: 1.681633202165944e-5
allele num: 118932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*117-5A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.226-5A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+710A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.379-5A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42960
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
hgvs: c.379-5A>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

15-82532906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532906
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532906
    reference: chr 15
allele count: 1
allele frequency: 8.432698632216282e-6
allele num: 118586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+705T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.226-10T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.379-10T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*117-10T>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/15-82532910-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532910
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532910
    reference: chr 15
allele count: 1
allele frequency: 8.445517963616709e-6
allele num: 118406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.379-14T>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+701T>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.226-14T>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*117-14T>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/15-82532911-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532911
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532911
    reference: chr 15
allele count: 1
allele frequency: 8.447658309116713e-6
allele num: 118376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.226-15T>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*117-15T>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.379-15T>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+700T>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46069
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

15-82532923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532923
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532923
    reference: chr 15
allele count: 2
allele frequency: 1.699177598042548e-5
allele num: 117704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.226-27T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.379-27T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+688T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*117-27T>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 150
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5106
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

15-82532944-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532944
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532944
    reference: chr 15
allele count: 1
allele frequency: 8.78981787497363e-6
allele num: 113768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+667A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*117-48A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.379-48A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.226-48A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5559
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 7010
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genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 14204
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 463
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 588
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

15-82532946-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82532946
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82532946
    reference: chr 15
allele count: 3
allele frequency: 2.632595036680824e-5
allele num: 113956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.226-50C>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*117-50C>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.379-50C>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+665C>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 334
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 575
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genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

15-82533581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533581
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533581
    reference: chr 15
allele count: 8
allele frequency: 6.667111140742716e-5
allele num: 119992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+30A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.225+30A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*116+30A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.378+30A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25207
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

15-82533585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533585
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533585
    reference: chr 15
allele count: 3
allele frequency: 2.498542516865162e-5
allele num: 120070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.225+26T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+26T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*116+26T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.378+26T>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 38277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 407
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genotype quality: GenotypeQuality
  all individuals: 911
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genotype quality: GenotypeQuality
  all individuals: 191
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

15-82533590-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533590
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533590
    reference: chr 15
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*116+21A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.225+21A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+21A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.378+21A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1468
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genotype quality: GenotypeQuality
  all individuals: 146
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6895
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6379
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

15-82533597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533597
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533597
    reference: chr 15
allele count: 29
allele frequency: 2.408477842003854e-4
allele num: 120408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.378+14A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.225+14A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*116+14A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+14A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18293
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2050
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 87
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
  all individuals: 38989
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

15-82533607-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533607
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533607
    reference: chr 15
allele count: 11
allele frequency: 9.126358582925412e-5
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.203+4A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*116+4A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.225+4A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.378+4A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: c.378+4A>G
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

15-82533614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533614
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533614
    reference: chr 15
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.222A>G
  hgvsp: ENST00000359445.3:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.375A>G
  hgvsp: ENST00000268206.7:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.200A>G
  hgvsp: ENST00000557939.1:c.200A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro125Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

15-82533614-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533614
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533614
    reference: chr 15
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*113A>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.375A>C
  hgvsp: ENST00000268206.7:c.375A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.200A>C
  hgvsp: ENST00000557939.1:c.200A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.222A>C
  hgvsp: ENST00000359445.3:c.222A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro125Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

15-82533618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533618
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533618
    reference: chr 15
allele count: 2
allele frequency: 1.658539821541115e-5
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.218G>A
  hgvsp: ENSP00000352418.3:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.196G>A
  hgvsp: ENSP00000452825.1:p.Cys66Tyr
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.371G>A
  hgvsp: ENSP00000268206.7:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25917
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6370
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys124Tyr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

15-82533622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533622
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533622
    reference: chr 15
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.367G>A
  hgvsp: ENSP00000268206.7:p.Val123Ile
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.214G>A
  hgvsp: ENSP00000352418.3:p.Val72Ile
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.192G>A
  hgvsp: ENSP00000452825.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val123Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

15-82533623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533623
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533623
    reference: chr 15
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.191A>G
  hgvsp: ENST00000557939.1:c.191A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.213A>G
  hgvsp: ENST00000359445.3:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.366A>G
  hgvsp: ENST00000268206.7:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*104A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6367
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly122Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

15-82533629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533629
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533629
    reference: chr 15
allele count: 3
allele frequency: 2.486943546381497e-5
allele num: 120630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.185G>A
  hgvsp: ENST00000557939.1:c.185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*98G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.207G>A
  hgvsp: ENST00000359445.3:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.360G>A
  hgvsp: ENST00000268206.7:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6972
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val120Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

15-82533639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533639
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533639
    reference: chr 15
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.350T>C
  hgvsp: ENSP00000268206.7:p.Val117Ala
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*88T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.175T>C
  hgvsp: ENSP00000452825.1:p.Val59Ala
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.197T>C
  hgvsp: ENSP00000352418.3:p.Val66Ala
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6368
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val117Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

15-82533659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533659
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533659
    reference: chr 15
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.155T>C
  hgvsp: ENST00000557939.1:c.155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.330T>C
  hgvsp: ENST00000268206.7:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*68T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.177T>C
  hgvsp: ENST00000359445.3:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys110Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

15-82533664-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533664
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533664
    reference: chr 15
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.172A>G
  hgvsp: ENSP00000352418.3:p.Ile58Val
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.150A>G
  hgvsp: ENSP00000452825.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.325A>G
  hgvsp: ENSP00000268206.7:p.Ile109Val
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*63A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile109Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

15-82533665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533665
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533665
    reference: chr 15
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.171C>T
  hgvsp: ENST00000359445.3:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.149C>T
  hgvsp: ENST00000557939.1:c.149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.324C>T
  hgvsp: ENST00000268206.7:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*62C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 667
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg108Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-82533666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533666
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533666
    reference: chr 15
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.323G>A
  hgvsp: ENSP00000268206.7:p.Arg108His
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*61G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.148G>A
  hgvsp: ENSP00000452825.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.170G>A
  hgvsp: ENSP00000352418.3:p.Arg57His
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6365
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
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genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg108His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

15-82533667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533667
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533667
    reference: chr 15
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.169C>T
  hgvsp: ENSP00000352418.3:p.Arg57Cys
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.147C>T
  hgvsp: ENSP00000452825.1:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.322C>T
  hgvsp: ENSP00000268206.7:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg108Cys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

15-82533673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533673
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533673
    reference: chr 15
allele count: 7
allele frequency: 5.80286827489016e-5
allele num: 120630
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.316G>A
  hgvsp: ENSP00000268206.7:p.Ala106Thr
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.141G>A
  hgvsp: ENSP00000452825.1:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.163G>A
  hgvsp: ENSP00000352418.3:p.Ala55Thr
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39343
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala106Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

15-82533674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533674
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533674
    reference: chr 15
allele count: 14
allele frequency: 1.160554413422641e-4
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.140C>T
  hgvsp: ENST00000557939.1:c.140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.315C>T
  hgvsp: ENST00000268206.7:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.162C>T
  hgvsp: ENST00000359445.3:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*53C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr105Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

15-82533683-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533683
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533683
    reference: chr 15
allele count: 180
allele frequency: 1.49251256198073e-3
allele num: 120602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.131A>C
  hgvsp: ENSP00000452825.1:p.Glu44Asp
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*44A>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.153A>C
  hgvsp: ENSP00000352418.3:p.Glu51Asp
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.306A>C
  hgvsp: ENSP00000268206.7:p.Glu102Asp
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18035
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26130
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu102Asp
num of homozygotes: 2
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

15-82533686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533686
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533686
    reference: chr 15
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.150A>G
  hgvsp: ENST00000359445.3:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.128A>G
  hgvsp: ENST00000557939.1:c.128A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.303A>G
  hgvsp: ENST00000268206.7:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*41A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser101Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

15-82533686-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533686
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533686
    reference: chr 15
allele count: 2970
allele frequency: 2.463013335102501e-2
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.303A>C
  hgvsp: ENST00000268206.7:c.303A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*41A>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.150A>C
  hgvsp: ENST00000359445.3:c.150A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.128A>C
  hgvsp: ENST00000557939.1:c.128A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 25813
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17705
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 3.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 9.75e1
  variant carriers: 2906
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser101Ser
num of homozygotes: 60
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

15-82533687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533687
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533687
    reference: chr 15
allele count: 3
allele frequency: 2.487974788522143e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.302C>T
  hgvsp: ENSP00000268206.7:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.149C>T
  hgvsp: ENSP00000352418.3:p.Ser50Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.127C>T
  hgvsp: ENSP00000452825.1:p.Ser43Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser101Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

15-82533689-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533689
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533689
    reference: chr 15
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*38C>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.125C>G
  hgvsp: ENST00000557939.1:c.125C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.147C>G
  hgvsp: ENST00000359445.3:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.300C>G
  hgvsp: ENST00000268206.7:c.300C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 7099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser100Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

15-82533698-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533698
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533698
    reference: chr 15
allele count: 7
allele frequency: 5.810092961487384e-5
allele num: 120480
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.291G>C
  hgvsp: ENST00000268206.7:c.291G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*29G>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.116G>C
  hgvsp: ENST00000557939.1:c.116G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.138G>C
  hgvsp: ENST00000359445.3:c.138G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val97Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

15-82533700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533700
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533700
    reference: chr 15
allele count: 2
allele frequency: 1.660577881102624e-5
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.289G>A
  hgvsp: ENSP00000268206.7:p.Val97Met
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.136G>A
  hgvsp: ENSP00000352418.3:p.Val46Met
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.114G>A
  hgvsp: ENSP00000452825.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val97Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

15-82533708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533708
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533708
    reference: chr 15
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.106C>T
  hgvsp: ENSP00000452825.1:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.281C>T
  hgvsp: ENSP00000268206.7:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.128C>T
  hgvsp: ENSP00000352418.3:p.Pro43Leu
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro94Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

15-82533713-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533713
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533713
    reference: chr 15
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*14C>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.123C>G
  hgvsp: ENSP00000352418.3:p.Asp41Glu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.276C>G
  hgvsp: ENSP00000268206.7:p.Asp92Glu
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.101C>G
  hgvsp: ENSP00000452825.1:p.Asp34Glu
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp92Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

15-82533719-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533719
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533719
    reference: chr 15
allele count: 28
allele frequency: 2.335513145602562e-4
allele num: 119888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.95G>C
  hgvsp: ENST00000557939.1:c.95G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.270G>C
  hgvsp: ENST00000268206.7:c.270G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.117G>C
  hgvsp: ENST00000359445.3:c.117G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*8G>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26831
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu90Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

15-82533725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533725
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533725
    reference: chr 15
allele count: 1
allele frequency: 8.356033892073466e-6
allele num: 119674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.264C>T
  hgvsp: ENST00000268206.7:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.89C>T
  hgvsp: ENST00000557939.1:c.89C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.111C>T
  hgvsp: ENST00000359445.3:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile88Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

15-82533728-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533728
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533728
    reference: chr 15
allele count: 1
allele frequency: 8.37184381488179e-6
allele num: 119448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.176G>C
  hgvsp: ENSP00000452687.1:p.Ter59SerextTer3
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.86G>C
  hgvsp: ENST00000557939.1:c.86G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.261G>C
  hgvsp: ENST00000268206.7:c.261G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.108G>C
  hgvsp: ENST00000359445.3:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter59SerextTer3
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

15-82533741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533741
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533741
    reference: chr 15
allele count: 6
allele frequency: 5.098139179199592e-5
allele num: 117690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.73A>G
  hgvsp: ENSP00000452825.1:p.Asn25Ser
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.163A>G
  hgvsp: ENSP00000452687.1:p.Met55Val
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.95A>G
  hgvsp: ENSP00000352418.3:p.Asn32Ser
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.248A>G
  hgvsp: ENSP00000268206.7:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn83Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

15-82533742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533742
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533742
    reference: chr 15
allele count: 429
allele frequency: 3.652555937744781e-3
allele num: 117452
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.247A>G
  hgvsp: ENSP00000268206.7:p.Asn83Asp
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.72A>G
  hgvsp: ENSP00000452825.1:p.Asn25Asp
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.94A>G
  hgvsp: ENSP00000352418.3:p.Asn32Asp
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.162A>G
  hgvsp: ENST00000561389.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 24572
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 16233
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn83Asp
num of homozygotes: 10
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

15-82533756-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533756
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533756
    reference: chr 15
allele count: 1
allele frequency: 8.633192900062159e-6
allele num: 115832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-12A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-12A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-12A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-12A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
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genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

15-82533763-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533763
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533763
    reference: chr 15
allele count: 1
allele frequency: 8.681761355743853e-6
allele num: 115184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-19T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-19T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-19T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-19T>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

15-82533772-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533772
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533772
    reference: chr 15
allele count: 1
allele frequency: 8.766393155200224e-6
allele num: 114072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-28A>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-28A>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-28A>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-28A>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 144
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genotype depth: GenotypeDepth
  all individuals: 710
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1257
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genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

15-82533778-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533778
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533777
    reference: chr 15
allele count: 139
allele frequency: 1.226138809498606e-3
allele num: 113364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-35delC
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-35delC
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-35delC
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-35delC
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 9.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17434
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TG
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-82533785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533785
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533785
    reference: chr 15
allele count: 1
allele frequency: 8.927136710171579e-6
allele num: 112018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-41C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-41C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-41C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-41C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 12327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7838
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-82533786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533786
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533786
    reference: chr 15
allele count: 1
allele frequency: 8.928571428571429e-6
allele num: 112000
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-42A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-42A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-42A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-42A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3022
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genotype quality: GenotypeQuality
  all individuals: 1023
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genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

15-82533790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533790
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533790
    reference: chr 15
allele count: 2
allele frequency: 1.801379856970439e-5
allele num: 111026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-46G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-46G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-46G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-46G>A
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12533
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 682
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

15-82533791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533791
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533791
    reference: chr 15
allele count: 2
allele frequency: 1.796460971885386e-5
allele num: 111330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-47T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-47T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-47T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-47T>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15630
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12561
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

15-82533792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533792
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533792
    reference: chr 15
allele count: 2
allele frequency: 1.799856011519078e-5
allele num: 111120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-48T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-48T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-48T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-48T>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15601
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

15-82533794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82533794
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82533794
    reference: chr 15
allele count: 2
allele frequency: 1.810774105930285e-5
allele num: 110450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.92-50C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.160-50C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.70-50C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.245-50C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15574
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

15-82544986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82544986
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82544986
    reference: chr 15
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+46T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+46T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6443T>C
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9043T>C
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1108
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

15-82544988-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82544988
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82544987
    reference: chr 15
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6440delT
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9040delT
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+43delT
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+43delT
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: GA
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

15-82544994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82544994
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82544994
    reference: chr 15
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9035A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+38A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+38A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6435A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

15-82544996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82544996
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82544996
    reference: chr 15
allele count: 20
allele frequency: 1.668669069550127e-4
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+36G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6433G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9033G>A
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+36G>A
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22011
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20812
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 39823
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

15-82545000-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82545000
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82544999
    reference: chr 15
allele count: 1
allele frequency: 8.335278231587371e-6
allele num: 119972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6428delG
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9028delG
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+31delG
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+31delG
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 21834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 1688
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genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: GC
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

15-82545004-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82545004
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82545004
    reference: chr 15
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+28A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6425A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9025A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+28A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

15-82545010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82545010
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82545010
    reference: chr 15
allele count: 5
allele frequency: 4.157450983652902e-5
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+22C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6419C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+22C>T
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9019C>T
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

15-82545029-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82545029
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 82545029
    reference: chr 15
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000268206
  ensembl transcript: ENST00000268206
  gene symbol: EFTUD1
  hgvsc: ENST00000268206.7:c.244+3A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452825
  ensembl transcript: ENST00000557939
  gene symbol: EFTUD1
  hgvsc: ENST00000557939.1:c.69+3A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000352418
  ensembl transcript: ENST00000359445
  gene symbol: EFTUD1
  hgvsc: ENST00000359445.3:c.91+9000A>G
  variant of: http://identifiers.org/hgnc/25789
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140598
  ensembl protein: ENSP00000452687
  ensembl transcript: ENST00000561389
  gene symbol: EFTUD1
  hgvsc: ENST00000561389.1:c.159+6400A>G
  variant of: http://identifiers.org/hgnc/25789
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
hgvs: c.244+3A>G
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.978299026647519e-5
allele num: 12534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 1.068932e6

MQ
type: SiteQuality
SIO_000300: 5.771e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 577
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.237336674422767e-5
allele num: 44696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

FS
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

DP
type: SiteQuality
SIO_000300: 1.104129e6

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeQuality
all individuals: 637
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36487
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.011020391746772e-5
allele num: 49726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.168475e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.542e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

GenotypeQuality
all individuals: 12266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.00664384940608e-4
allele num: 9934
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.864e0

DP
type: SiteQuality
SIO_000300: 1.182084e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.175e1

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 3.066e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45701
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636232737744617e-5
allele num: 61116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.32693e6

VQSLOD
type: SiteQuality
SIO_000300: -7.796e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.371e0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63428
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.355712603062426e-4
allele num: 8490
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: 15782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.782e0

FS
type: SiteQuality
SIO_000300: 5.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.477e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
SIO_000300: 1.364075e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48412
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.568e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 1.370845e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 4.734e0

QD
type: SiteQuality
SIO_000300: 1.238e1

MQ
type: SiteQuality
SIO_000300: 5.847e1

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4477
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variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.075731497418244e-4
allele num: 9296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.888e1

QD
type: SiteQuality
SIO_000300: 1.138e1

VQSLOD
type: SiteQuality
SIO_000300: -3.488e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 1.380033e6

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 1.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64440
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.344665885111372e-4
allele num: 8530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

DP
type: SiteQuality
SIO_000300: 1.380033e6

FS
type: SiteQuality
SIO_000300: 1.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.488e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

MQ
type: SiteQuality
SIO_000300: 5.888e1

GenotypeQuality
all individuals: 1639
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 881
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.062925170068027e-4
allele num: 9408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.421e1

DP
type: SiteQuality
SIO_000300: 1.387944e6

MQ
type: SiteQuality
SIO_000300: 5.885e1

FS
type: SiteQuality
SIO_000300: 1.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.222e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.62e-1

FS
type: SiteQuality
SIO_000300: 2.177e0

QD
type: SiteQuality
SIO_000300: 7.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.405605e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4591
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variant carriers: 0

GenotypeQuality
all individuals: 917
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variant carriers: 0

GenotypeQuality
all individuals: 50785
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.115911923556294e-4
allele num: 9628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 4.377e0

QD
type: SiteQuality
SIO_000300: 8.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.456e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.272e-1

DP
type: SiteQuality
SIO_000300: 1.405915e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

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

GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 784
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.118453255017132e-5
allele num: 16344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

DP
type: SiteQuality
SIO_000300: 1.406448e6

QD
type: SiteQuality
SIO_000300: 1.034e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
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variant carriers: 0

GenotypeQuality
all individuals: 374
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GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223540927444023e-4
allele num: 16346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.51e0

VQSLOD
type: SiteQuality
SIO_000300: -2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.646e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.407258e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50904
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GenotypeQuality
all individuals: 4605
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034625072072346e-5
allele num: 65906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.408062e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.32e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

FS
type: SiteQuality
SIO_000300: 5.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

GenotypeQuality
all individuals: 4630
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 370
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GenotypeQuality
all individuals: 88
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16370
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.689e0

VQSLOD
type: SiteQuality
SIO_000300: -6.509e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e0

MQ
type: SiteQuality
SIO_000300: 5.775e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.412279e6

QD
type: SiteQuality
SIO_000300: 2.832e1

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0159e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.759e0

VQSLOD
type: SiteQuality
SIO_000300: -2.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQ
type: SiteQuality
SIO_000300: 5.73e1

DP
type: SiteQuality
SIO_000300: 1.413586e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 1170
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 4500
bin: 6.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.150818058801821e-5
allele num: 16258
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52452968259292e-5
allele num: 65594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.390174e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.06e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65408
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.045806316670153e-4
allele num: 9562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 1.375279e6

FS
type: SiteQuality
SIO_000300: 2.744e0

QD
type: SiteQuality
SIO_000300: 8.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.047559187094071e-4
allele num: 9546
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65312
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.615e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.36486e6

FS
type: SiteQuality
SIO_000300: 2.336e0

QD
type: SiteQuality
SIO_000300: 1.503e1

MQ
type: SiteQuality
SIO_000300: 5.517e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.658e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.048218029350105e-4
allele num: 9540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.331e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.835e1

DP
type: SiteQuality
SIO_000300: 1.360501e6

FS
type: SiteQuality
SIO_000300: 6.99e0

VQSLOD
type: SiteQuality
SIO_000300: -2.607e0

QD
type: SiteQuality
SIO_000300: 9.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.755001755001755e-4
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

Other
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: 9494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64872
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.295184e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 5.742e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 2.2789e1

QD
type: SiteQuality
SIO_000300: 1.412e1

VQSLOD
type: SiteQuality
SIO_000300: -3.639e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.555209953343701e-4
allele num: 6430
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.224932e6

MQ
type: SiteQuality
SIO_000300: 5.798e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.312e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e0

VQSLOD
type: SiteQuality
SIO_000300: -2.687e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.781638508128785e-5
allele num: 62740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.22443e6

VQSLOD
type: SiteQuality
SIO_000300: -3.119e-1

FS
type: SiteQuality
SIO_000300: 4.476e0

MQ
type: SiteQuality
SIO_000300: 5.476e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.472e1

GenotypeQuality
all individuals: 37753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203804020705429e-4
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

FS
type: SiteQuality
SIO_000300: 1.0849e1

VQSLOD
type: SiteQuality
SIO_000300: -3.347e0

MQ
type: SiteQuality
SIO_000300: 4.509e1

MQRankSum
type: SiteQuality
SIO_000300: -2.471e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.761682e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.044989775051125e-4
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.76545e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQ
type: SiteQuality
SIO_000300: 4.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 2.299e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.373e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 2.957e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

DP
type: SiteQuality
SIO_000300: 1.769768e6

MQ
type: SiteQuality
SIO_000300: 4.5e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 24
allele frequency: 3.604036520903412e-4
allele num: 66592
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.835535976505139e-4
allele num: 16344
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.2689e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
type: SiteQuality
SIO_000300: 1.774241e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

MQRankSum
type: SiteQuality
SIO_000300: -2.754e0

MQ
type: SiteQuality
SIO_000300: 4.46e1

QD
type: SiteQuality
SIO_000300: 6.33e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.651056676272814e-4
allele num: 66624
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.674e1

DP
type: SiteQuality
SIO_000300: 1.776519e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 4.596e1

DP
type: SiteQuality
SIO_000300: 1.777202e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 906
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 3.1e-3

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

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

African
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allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16456
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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VQSLOD
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QD
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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SIO_000300: 1.777558e6

ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
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allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 4.667e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 4.5004500450045e-5
allele num: 66660
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8624
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.957e1

FS
type: SiteQuality
SIO_000300: 3.831e0

BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8620
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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Other
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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num of homozygotes: 0

African
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East Asian
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European (Finnish)
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Latino
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DP
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

European (Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.950312049927989e-4
allele num: 66656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.32e1

DP
type: SiteQuality
SIO_000300: 1.779707e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.331e1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6456
bin: 9.75e1
variant carriers: 177

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.454342984409799e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 72
allele frequency: 1.089588377723971e-2
allele num: 6608
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 101
allele frequency: 1.515560757480268e-3
allele num: 66642
num of homozygotes: 1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

FS
type: SiteQuality
SIO_000300: 5.249e0

MQRankSum
type: SiteQuality
SIO_000300: -3.09e0

DP
type: SiteQuality
SIO_000300: 1.782309e6

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.599e0

MQ
type: SiteQuality
SIO_000300: 4.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

GenotypeQuality
all individuals: 6761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.431e1

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.855263e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

GenotypeQuality
all individuals: 1262
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 517
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
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variant carriers: 1

Other
type: Population
allele count: 20
allele frequency: 2.2271714922049e-2
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1285
allele frequency: 1.928387058046702e-2
allele num: 66636
num of homozygotes: 17

African
type: Population
allele count: 802
allele frequency: 8.185343947744438e-2
allele num: 9798
num of homozygotes: 27

Latino
type: Population
allele count: 182
allele frequency: 1.576576576576576e-2
allele num: 11544
num of homozygotes: 3

East Asian
type: Population
allele count: 208
allele frequency: 2.413553028544906e-2
allele num: 8618
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 179
allele frequency: 2.708018154311649e-2
allele num: 6610
num of homozygotes: 2

South Asian
type: Population
allele count: 294
allele frequency: 1.783980582524272e-2
allele num: 16480
num of homozygotes: 7

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.428e1

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.855263e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.431e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 37
bin: 3.25e1
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GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.746963e6

MQ
type: SiteQuality
SIO_000300: 5.355e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.499e0

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: -1.132e0

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.277e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.903e1

DP
type: SiteQuality
SIO_000300: 1.746474e6

VQSLOD
type: SiteQuality
SIO_000300: -7.177e-1

FS
type: SiteQuality
SIO_000300: 1.397e0

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.513e1

GenotypeQuality
all individuals: 760
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variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 1336
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GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051335195698537e-4
allele num: 66582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -2.564e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

MQ
type: SiteQuality
SIO_000300: 5.587e1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 1.934e0

DP
type: SiteQuality
SIO_000300: 1.744977e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 1988
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variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.093e0

FS
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.065e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 1.744031e6

VQSLOD
type: SiteQuality
SIO_000300: -2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.011e1

GenotypeQuality
all individuals: 1321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.59e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.272e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.384e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.656e0

DP
type: SiteQuality
SIO_000300: 1.740956e6

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 5016
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.645e0

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.444e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.426e1

FS
type: SiteQuality
SIO_000300: 2.978e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.738156e6

GenotypeQuality
all individuals: 760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5030
bin: 9.75e1
variant carriers: 28

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 27
allele frequency: 2.762430939226519e-3
allele num: 9774
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.732359e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 5.646e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1872
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GenotypeQuality
all individuals: 5002
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509479531457553e-5
allele num: 66248
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.594e0

DP
type: SiteQuality
SIO_000300: 1.726334e6

MQRankSum
type: SiteQuality
SIO_000300: -3.64e0

FS
type: SiteQuality
SIO_000300: 2.421e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.764e0

VQSLOD
type: SiteQuality
SIO_000300: -4.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 4.749e1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 1205
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.722322e6

FS
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.763e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 1.216e1

VQSLOD
type: SiteQuality
SIO_000300: -1.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.177399125087951e-5
allele num: 65378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -8.985e-1

DP
type: SiteQuality
SIO_000300: 1.669559e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.714e1

QD
type: SiteQuality
SIO_000300: 1.585e1

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5188
bin: 9.75e1
variant carriers: 418

GenotypeQuality
all individuals: 1187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 391
allele frequency: 4.040926002480364e-2
allele num: 9676
num of homozygotes: 10

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

South Asian
type: Population
allele count: 3
allele frequency: 1.974463604054232e-4
allele num: 15194
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.309468822170901e-3
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.192021325489476e-5
allele num: 65274
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.3775977456851e-3
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.47e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.701e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.98e-2

DP
type: SiteQuality
SIO_000300: 1.664579e6

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

GenotypeQuality
all individuals: 1147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183151916706105e-4
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.476e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.729e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 1.577426e6

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1417
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.970584134950509e-5
allele num: 14346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64216
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.562e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.558e1

DP
type: SiteQuality
SIO_000300: 1.526047e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 1615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21606
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567692983006208e-5
allele num: 63788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.432416e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 9.84e0

FS
type: SiteQuality
SIO_000300: 2.087e0

VQSLOD
type: SiteQuality
SIO_000300: -9.859e-1

MQ
type: SiteQuality
SIO_000300: 5.465e1

GenotypeQuality
all individuals: 564
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.346015793251974e-3
allele num: 11144
num of homozygotes: 0

African
type: Population
allele count: 117
allele frequency: 1.231838281743525e-2
allele num: 9498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.873271816836205e-5
allele num: 63506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.416196974191635e-5
allele num: 13484
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.187648456057007e-3
allele num: 842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.381288e6

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 4.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 5.785e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

QD
type: SiteQuality
SIO_000300: 1.455e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

GenotypeQuality
all individuals: 4827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3975
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6689
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.707723138584863e-5
allele num: 12974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.333925e6

MQ
type: SiteQuality
SIO_000300: 5.443e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.776e0

VQSLOD
type: SiteQuality
SIO_000300: -1.412e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 6.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589622941438291e-5
allele num: 62908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.941e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.728e1

QD
type: SiteQuality
SIO_000300: 2.047e1

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.328987e6

GenotypeQuality
all individuals: 1069
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.586294416243655e-4
allele num: 12608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.707e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.072e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.31716e6

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.196011377800505e-5
allele num: 62578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

DP
type: SiteQuality
SIO_000300: 1.316757e6

QD
type: SiteQuality
SIO_000300: 1.384e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.897e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4825
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3993
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6e-5
allele num: 62500
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.067235859124867e-4
allele num: 9370
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.934e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 1.315305e6

VQSLOD
type: SiteQuality
SIO_000300: -1.25e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
all individuals: 6653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.220300776092487e-5
allele num: 62106
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.312369e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.682e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.549e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.466e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

FS
type: SiteQuality
SIO_000300: 5.619e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.63e0

GenotypeQuality
all individuals: 4840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

DP
type: SiteQuality
SIO_000300: 1.80369e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.989e0

MQ
type: SiteQuality
SIO_000300: 4.515e1

GenotypeQuality
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.086e0

QD
type: SiteQuality
SIO_000300: 1.001e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.80951e6

MQ
type: SiteQuality
SIO_000300: 4.346e1

GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.063e0

FS
type: SiteQuality
SIO_000300: 3.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
SIO_000300: 1.826049e6

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 4.42e1

QD
type: SiteQuality
SIO_000300: 1.149e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

GenotypeQuality
all individuals: 723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.870524248375888e-4
allele num: 66190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.031e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e0

QD
type: SiteQuality
SIO_000300: 1.358e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.228e0

DP
type: SiteQuality
SIO_000300: 1.83355e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 4.389e1

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6445
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.843816e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQ
type: SiteQuality
SIO_000300: 4.257e1

QD
type: SiteQuality
SIO_000300: 1.795e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.828e0

GenotypeQuality
all individuals: 6515
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507613447911955e-5
allele num: 66330
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.564e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 4.779e1

QD
type: SiteQuality
SIO_000300: 3.503e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.694e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.853429e6

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.021375884389583e-5
allele num: 66430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.678e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.863557e6

MQ
type: SiteQuality
SIO_000300: 4.516e1

FS
type: SiteQuality
SIO_000300: 3.087e0

QD
type: SiteQuality
SIO_000300: 1.192e1