19-38976367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976367
    reference: chr 19
allele count: 1
allele frequency: 8.39785686692756e-6
allele num: 119078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5072C>T
  hgvsp: ENSP00000354254.3:p.Ala1691Val
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5072C>T
  hgvsp: ENSP00000352608.2:p.Ala1691Val
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5072C>T
  hgvsp: ENSP00000347667.3:p.Ala1691Val
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36227
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala1691Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-38976371-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976371
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976370
    reference: chr 19
allele count: 1
allele frequency: 8.396869646995599e-6
allele num: 119092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5077delC
  hgvsp: ENSP00000354254.3:p.Leu1693CysfsTer79
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5077delC
  hgvsp: ENSP00000352608.2:p.Leu1693CysfsTer79
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5077delC
  hgvsp: ENSP00000347667.3:p.Leu1693CysfsTer79
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
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genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 36227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1693CysfsTer79
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: GC
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

19-38976373-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976373
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976373
    reference: chr 19
allele count: 1
allele frequency: 8.39433214693439e-6
allele num: 119128
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5078T>G
  hgvsp: ENSP00000352608.2:p.Leu1693Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5078T>G
  hgvsp: ENSP00000354254.3:p.Leu1693Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5078T>G
  hgvsp: ENSP00000347667.3:p.Leu1693Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 232
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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: 1611
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genotype quality: GenotypeQuality
  all individuals: 1909
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genotype quality: GenotypeQuality
  all individuals: 61
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genotype quality: GenotypeQuality
  all individuals: 36227
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1693Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-38976380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976380
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976380
    reference: chr 19
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5085C>T
  hgvsp: ENST00000359596.3:c.5085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5085C>T
  hgvsp: ENST00000360985.3:c.5085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5085C>T
  hgvsp: ENST00000355481.4:c.5085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
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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: 3363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1695His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-38976387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976387
    reference: chr 19
allele count: 3
allele frequency: 2.519484009674819e-5
allele num: 119072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5092G>A
  hgvsp: ENSP00000354254.3:p.Glu1698Lys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5092G>A
  hgvsp: ENSP00000347667.3:p.Glu1698Lys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5092G>A
  hgvsp: ENSP00000352608.2:p.Glu1698Lys
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36228
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1698Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-38976392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976392
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976392
    reference: chr 19
allele count: 2
allele frequency: 1.680700515975058e-5
allele num: 118998
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5097C>T
  hgvsp: ENST00000359596.3:c.5097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5097C>T
  hgvsp: ENST00000355481.4:c.5097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5097C>T
  hgvsp: ENST00000360985.3:c.5097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36227
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1699Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

19-38976393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976393
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976393
    reference: chr 19
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5098G>A
  hgvsp: ENSP00000347667.3:p.Ala1700Thr
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5098G>A
  hgvsp: ENSP00000352608.2:p.Ala1700Thr
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5098G>A
  hgvsp: ENSP00000354254.3:p.Ala1700Thr
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1700Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

19-38976394-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976394
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976394
    reference: chr 19
allele count: 1
allele frequency: 8.403220113947665e-6
allele num: 119002
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5099C>G
  hgvsp: ENSP00000352608.2:p.Ala1700Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5099C>G
  hgvsp: ENSP00000354254.3:p.Ala1700Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5099C>G
  hgvsp: ENSP00000347667.3:p.Ala1700Gly
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1700Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-38976395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976395
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976395
    reference: chr 19
allele count: 3
allele frequency: 2.520076610328954e-5
allele num: 119044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5100G>A
  hgvsp: ENST00000360985.3:c.5100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5100G>A
  hgvsp: ENST00000359596.3:c.5100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5100G>A
  hgvsp: ENST00000355481.4:c.5100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1700Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-38976404-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976404
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976404
    reference: chr 19
allele count: 1
allele frequency: 8.39348665435622e-6
allele num: 119140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5109A>C
  hgvsp: ENST00000355481.4:c.5109A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5109A>C
  hgvsp: ENST00000360985.3:c.5109A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5109A>C
  hgvsp: ENST00000359596.3:c.5109A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8365
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1703Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-38976407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976407
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976407
    reference: chr 19
allele count: 1087
allele frequency: 9.122648001745641e-3
allele num: 119154
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5112C>T
  hgvsp: ENST00000360985.3:c.5112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5112C>T
  hgvsp: ENST00000359596.3:c.5112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5112C>T
  hgvsp: ENST00000355481.4:c.5112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 7.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 6.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 9.75e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 5.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 7.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36558
  bin: 9.75e1
  variant carriers: 1020
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Gly1704Gly
num of homozygotes: 56
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

19-38976415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976415
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976415
    reference: chr 19
allele count: 2
allele frequency: 1.679176531828791e-5
allele num: 119106
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5120G>A
  hgvsp: ENSP00000347667.3:p.Arg1707His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5120G>A
  hgvsp: ENSP00000352608.2:p.Arg1707His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5120G>A
  hgvsp: ENSP00000354254.3:p.Arg1707His
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36222
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1707His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-38976416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976416
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976416
    reference: chr 19
allele count: 1
allele frequency: 8.39630562552477e-6
allele num: 119100
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5121C>T
  hgvsp: ENST00000359596.3:c.5121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5121C>T
  hgvsp: ENST00000355481.4:c.5121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5121C>T
  hgvsp: ENST00000360985.3:c.5121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1707Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-38976427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976427
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976427
    reference: chr 19
allele count: 2
allele frequency: 1.679402132840709e-5
allele num: 119090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5132A>G
  hgvsp: ENSP00000347667.3:p.Tyr1711Cys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5132A>G
  hgvsp: ENSP00000354254.3:p.Tyr1711Cys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5132A>G
  hgvsp: ENSP00000352608.2:p.Tyr1711Cys
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36223
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr1711Cys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-38976427-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976427
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976427
    reference: chr 19
allele count: 1
allele frequency: 8.397010664203544e-6
allele num: 119090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5132A>T
  hgvsp: ENSP00000352608.2:p.Tyr1711Phe
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5132A>T
  hgvsp: ENSP00000354254.3:p.Tyr1711Phe
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5132A>T
  hgvsp: ENSP00000347667.3:p.Tyr1711Phe
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr1711Phe
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-38976448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976448
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976448
    reference: chr 19
allele count: 2
allele frequency: 1.686454398273071e-5
allele num: 118592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5153A>C
  hgvsp: ENSP00000347667.3:p.His1718Pro
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5153A>C
  hgvsp: ENSP00000352608.2:p.His1718Pro
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5153A>C
  hgvsp: ENSP00000354254.3:p.His1718Pro
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His1718Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-38976450-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976450
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976450
    reference: chr 19
allele count: 2
allele frequency: 1.681520094165125e-5
allele num: 118940
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5155C>A
  hgvsp: ENSP00000352608.2:p.Leu1719Ile
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5155C>A
  hgvsp: ENSP00000347667.3:p.Leu1719Ile
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5155C>A
  hgvsp: ENSP00000354254.3:p.Leu1719Ile
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36206
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8081
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1719Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-38976452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976452
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976452
    reference: chr 19
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5157C>T
  hgvsp: ENST00000360985.3:c.5157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5157C>T
  hgvsp: ENST00000355481.4:c.5157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5157C>T
  hgvsp: ENST00000359596.3:c.5157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1719Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-38976453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976453
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976453
    reference: chr 19
allele count: 1
allele frequency: 8.414391976035812e-6
allele num: 118844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5158G>A
  hgvsp: ENSP00000347667.3:p.Glu1720Lys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5158G>A
  hgvsp: ENSP00000352608.2:p.Glu1720Lys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5158G>A
  hgvsp: ENSP00000354254.3:p.Glu1720Lys
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu1720Lys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

19-38976465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976465
    reference: chr 19
allele count: 1
allele frequency: 8.441525552497847e-6
allele num: 118462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5170C>T
  hgvsp: ENSP00000354254.3:p.Arg1724Cys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5170C>T
  hgvsp: ENSP00000347667.3:p.Arg1724Cys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5170C>T
  hgvsp: ENSP00000352608.2:p.Arg1724Cys
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1724Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

19-38976466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976466
    reference: chr 19
allele count: 2
allele frequency: 1.686482840037103e-5
allele num: 118590
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5171G>A
  hgvsp: ENSP00000352608.2:p.Arg1724His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5171G>A
  hgvsp: ENSP00000347667.3:p.Arg1724His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5171G>A
  hgvsp: ENSP00000354254.3:p.Arg1724His
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36151
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1724His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-38976470-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976470
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976470
    reference: chr 19
allele count: 1
allele frequency: 8.408166010829718e-6
allele num: 118932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5175C>A
  hgvsp: ENSP00000354254.3:p.Ser1725Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5175C>A
  hgvsp: ENSP00000352608.2:p.Ser1725Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5175C>A
  hgvsp: ENSP00000347667.3:p.Ser1725Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1725Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

19-38976474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976474
    reference: chr 19
allele count: 1
allele frequency: 8.401666890711118e-6
allele num: 119024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5179C>T
  hgvsp: ENSP00000347667.3:p.Arg1727Cys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5179C>T
  hgvsp: ENSP00000352608.2:p.Arg1727Cys
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5179C>T
  hgvsp: ENSP00000354254.3:p.Arg1727Cys
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8738
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 59
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genotype quality: GenotypeQuality
  all individuals: 36147
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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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: 2311
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1727Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

19-38976475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976475
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976475
    reference: chr 19
allele count: 2
allele frequency: 1.68019221398928e-5
allele num: 119034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5180G>A
  hgvsp: ENSP00000352608.2:p.Arg1727His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5180G>A
  hgvsp: ENSP00000347667.3:p.Arg1727His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5180G>A
  hgvsp: ENSP00000354254.3:p.Arg1727His
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36147
  bin: 9.75e1
  variant carriers: 2
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: 22
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 161
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1727His
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-38976485-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976485
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976485
    reference: chr 19
allele count: 1
allele frequency: 8.391092016715055e-6
allele num: 119174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5190C>G
  hgvsp: ENST00000355481.4:c.5190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5190C>G
  hgvsp: ENST00000360985.3:c.5190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5190C>G
  hgvsp: ENST00000359596.3:c.5190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1730Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

19-38976488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976488
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976488
    reference: chr 19
allele count: 2
allele frequency: 1.678218403343011e-5
allele num: 119174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5193T>C
  hgvsp: ENST00000360985.3:c.5193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5193T>C
  hgvsp: ENST00000355481.4:c.5193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5193T>C
  hgvsp: ENST00000359596.3:c.5193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36147
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1731Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

19-38976489-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976489
    reference: chr 19
allele count: 1
allele frequency: 8.391514500537057e-6
allele num: 119168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5194G>C
  hgvsp: ENSP00000352608.2:p.Glu1732Gln
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5194G>C
  hgvsp: ENSP00000354254.3:p.Glu1732Gln
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5194G>C
  hgvsp: ENSP00000347667.3:p.Glu1732Gln
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1732Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-38976492-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976492
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976492
    reference: chr 19
allele count: 1
allele frequency: 8.38841727342885e-6
allele num: 119212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5197T>A
  hgvsp: ENSP00000354254.3:p.Tyr1733Asn
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5197T>A
  hgvsp: ENSP00000347667.3:p.Tyr1733Asn
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5197T>A
  hgvsp: ENSP00000352608.2:p.Tyr1733Asn
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr1733Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-38976493-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976493
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976493
    reference: chr 19
allele count: 2
allele frequency: 1.677711601375723e-5
allele num: 119210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5198A>C
  hgvsp: ENSP00000347667.3:p.Tyr1733Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5198A>C
  hgvsp: ENSP00000354254.3:p.Tyr1733Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5198A>C
  hgvsp: ENSP00000352608.2:p.Tyr1733Ser
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr1733Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-38976494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976494
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976494
    reference: chr 19
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5199C>T
  hgvsp: ENST00000355481.4:c.5199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5199C>T
  hgvsp: ENST00000360985.3:c.5199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5199C>T
  hgvsp: ENST00000359596.3:c.5199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9109
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr1733Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-38976500-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976500
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976500
    reference: chr 19
allele count: 4
allele frequency: 3.355592094225026e-5
allele num: 119204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5205G>C
  hgvsp: ENST00000359596.3:c.5205G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5205G>C
  hgvsp: ENST00000360985.3:c.5205G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5205G>C
  hgvsp: ENST00000355481.4:c.5205G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36146
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
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genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1735Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

19-38976501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976501
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976501
    reference: chr 19
allele count: 1
allele frequency: 8.38841727342885e-6
allele num: 119212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5206C>T
  hgvsp: ENSP00000352608.2:p.Pro1736Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5206C>T
  hgvsp: ENSP00000347667.3:p.Pro1736Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5206C>T
  hgvsp: ENSP00000354254.3:p.Pro1736Ser
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 9088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1736Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-38976503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976503
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976503
    reference: chr 19
allele count: 1
allele frequency: 8.387010198604401e-6
allele num: 119232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5208C>T
  hgvsp: ENST00000359596.3:c.5208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5208C>T
  hgvsp: ENST00000360985.3:c.5208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5208C>T
  hgvsp: ENST00000355481.4:c.5208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1736Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-38976520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976520
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976520
    reference: chr 19
allele count: 2
allele frequency: 1.677233236053806e-5
allele num: 119244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5225G>A
  hgvsp: ENSP00000352608.2:p.Arg1742His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5225G>A
  hgvsp: ENSP00000354254.3:p.Arg1742His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5225G>A
  hgvsp: ENSP00000347667.3:p.Arg1742His
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36142
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1742His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-38976521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976521
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976521
    reference: chr 19
allele count: 4
allele frequency: 3.354522735277839e-5
allele num: 119242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5226C>T
  hgvsp: ENST00000359596.3:c.5226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5226C>T
  hgvsp: ENST00000360985.3:c.5226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5226C>T
  hgvsp: ENST00000355481.4:c.5226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36142
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg1742Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-38976529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976529
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976529
    reference: chr 19
allele count: 2
allele frequency: 1.677233236053806e-5
allele num: 119244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5234C>T
  hgvsp: ENSP00000352608.2:p.Thr1745Met
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5234C>T
  hgvsp: ENSP00000354254.3:p.Thr1745Met
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5234C>T
  hgvsp: ENSP00000347667.3:p.Thr1745Met
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36140
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1745Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-38976530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976530
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976530
    reference: chr 19
allele count: 14
allele frequency: 1.174082957347243e-4
allele num: 119242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5235G>A
  hgvsp: ENST00000360985.3:c.5235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5235G>A
  hgvsp: ENST00000355481.4:c.5235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5235G>A
  hgvsp: ENST00000359596.3:c.5235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36141
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1745Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-38976531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976531
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976531
    reference: chr 19
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5236C>T
  hgvsp: ENSP00000354254.3:p.Leu1746Phe
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5236C>T
  hgvsp: ENSP00000347667.3:p.Leu1746Phe
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5236C>T
  hgvsp: ENSP00000352608.2:p.Leu1746Phe
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1746Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

19-38976533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976533
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976533
    reference: chr 19
allele count: 1
allele frequency: 8.387150884844418e-6
allele num: 119230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5238C>T
  hgvsp: ENST00000359596.3:c.5238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5238C>T
  hgvsp: ENST00000355481.4:c.5238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5238C>T
  hgvsp: ENST00000360985.3:c.5238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1746Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

19-38976545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976545
    reference: chr 19
allele count: 1
allele frequency: 8.386869517084054e-6
allele num: 119234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5250A>G
  hgvsp: ENST00000355481.4:c.5250A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5250A>G
  hgvsp: ENST00000360985.3:c.5250A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5250A>G
  hgvsp: ENST00000359596.3:c.5250A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1750Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-38976546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976546
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976546
    reference: chr 19
allele count: 1
allele frequency: 8.386728840283135e-6
allele num: 119236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5251A>G
  hgvsp: ENSP00000352608.2:p.Arg1751Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5251A>G
  hgvsp: ENSP00000354254.3:p.Arg1751Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5251A>G
  hgvsp: ENSP00000347667.3:p.Arg1751Gly
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36133
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1751Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-38976548-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976548
    reference: chr 19
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5253G>A
  hgvsp: ENST00000360985.3:c.5253G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5253G>A
  hgvsp: ENST00000359596.3:c.5253G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5253G>A
  hgvsp: ENST00000355481.4:c.5253G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36133
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1751Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-38976549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976549
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976549
    reference: chr 19
allele count: 2
allele frequency: 1.677261367638919e-5
allele num: 119242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5254A>G
  hgvsp: ENSP00000352608.2:p.Ser1752Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5254A>G
  hgvsp: ENSP00000347667.3:p.Ser1752Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5254A>G
  hgvsp: ENSP00000354254.3:p.Ser1752Gly
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36133
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1752Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

19-38976550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976550
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976550
    reference: chr 19
allele count: 1
allele frequency: 8.386025527061704e-6
allele num: 119246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5255G>A
  hgvsp: ENSP00000352608.2:p.Ser1752Asn
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5255G>A
  hgvsp: ENSP00000354254.3:p.Ser1752Asn
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5255G>A
  hgvsp: ENSP00000347667.3:p.Ser1752Asn
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1752Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-38976566-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976566
    reference: chr 19
allele count: 1
allele frequency: 8.395882659143956e-6
allele num: 119106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5271C>A
  hgvsp: ENSP00000347667.3:p.His1757Gln
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5271C>A
  hgvsp: ENSP00000354254.3:p.His1757Gln
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5271C>A
  hgvsp: ENSP00000352608.2:p.His1757Gln
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His1757Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

19-38976566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976566
    reference: chr 19
allele count: 3
allele frequency: 2.518764797743187e-5
allele num: 119106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5271C>T
  hgvsp: ENST00000359596.3:c.5271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5271C>T
  hgvsp: ENST00000360985.3:c.5271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5271C>T
  hgvsp: ENST00000355481.4:c.5271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36130
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His1757His
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-38976568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976568
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976568
    reference: chr 19
allele count: 2
allele frequency: 1.679514956080684e-5
allele num: 119082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5273C>T
  hgvsp: ENSP00000354254.3:p.Pro1758Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5273C>T
  hgvsp: ENSP00000352608.2:p.Pro1758Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5273C>T
  hgvsp: ENSP00000347667.3:p.Pro1758Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36128
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1758Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-38976570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976570
    reference: chr 19
allele count: 2
allele frequency: 1.679458542565877e-5
allele num: 119086
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5275C>T
  hgvsp: ENSP00000352608.2:p.Arg1759Trp
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5275C>T
  hgvsp: ENSP00000354254.3:p.Arg1759Trp
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5275C>T
  hgvsp: ENSP00000347667.3:p.Arg1759Trp
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36128
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg1759Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-38976571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976571
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976571
    reference: chr 19
allele count: 1
allele frequency: 8.397151686148059e-6
allele num: 119088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5276G>A
  hgvsp: ENSP00000347667.3:p.Arg1759Gln
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5276G>A
  hgvsp: ENSP00000354254.3:p.Arg1759Gln
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5276G>A
  hgvsp: ENSP00000352608.2:p.Arg1759Gln
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1759Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-38976573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976573
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976573
    reference: chr 19
allele count: 1
allele frequency: 8.397574780403419e-6
allele num: 119082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5278C>T
  hgvsp: ENSP00000347667.3:p.His1760Tyr
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5278C>T
  hgvsp: ENSP00000354254.3:p.His1760Tyr
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5278C>T
  hgvsp: ENSP00000352608.2:p.His1760Tyr
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His1760Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-38976574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976574
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976574
    reference: chr 19
allele count: 1
allele frequency: 8.398562166157153e-6
allele num: 119068
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5279A>G
  hgvsp: ENSP00000352608.2:p.His1760Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5279A>G
  hgvsp: ENSP00000347667.3:p.His1760Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5279A>G
  hgvsp: ENSP00000354254.3:p.His1760Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 36127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1760Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-38976574-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976574
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976574
    reference: chr 19
allele count: 1
allele frequency: 8.398562166157153e-6
allele num: 119068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5279A>T
  hgvsp: ENSP00000347667.3:p.His1760Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5279A>T
  hgvsp: ENSP00000352608.2:p.His1760Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5279A>T
  hgvsp: ENSP00000354254.3:p.His1760Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 36127
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
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genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1760Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

19-38976578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976578
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976578
    reference: chr 19
allele count: 1
allele frequency: 8.398138972403716e-6
allele num: 119074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5283C>T
  hgvsp: ENST00000355481.4:c.5283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5283C>T
  hgvsp: ENST00000360985.3:c.5283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5283C>T
  hgvsp: ENST00000359596.3:c.5283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1761Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-38976582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976582
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976582
    reference: chr 19
allele count: 8
allele frequency: 6.718849732925722e-5
allele num: 119068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5287C>T
  hgvsp: ENSP00000354254.3:p.Pro1763Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5287C>T
  hgvsp: ENSP00000352608.2:p.Pro1763Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5287C>T
  hgvsp: ENSP00000347667.3:p.Pro1763Ser
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
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genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36129
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8701
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1763Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

19-38976584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976584
    reference: chr 19
allele count: 5
allele frequency: 4.198857910648303e-5
allele num: 119080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5289G>A
  hgvsp: ENST00000355481.4:c.5289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5289G>A
  hgvsp: ENST00000360985.3:c.5289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5289G>A
  hgvsp: ENST00000359596.3:c.5289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36126
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1763Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

19-38976584-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976584
    reference: chr 19
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5289G>C
  hgvsp: ENST00000355481.4:c.5289G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5289G>C
  hgvsp: ENST00000359596.3:c.5289G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5289G>C
  hgvsp: ENST00000360985.3:c.5289G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8812
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1763Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

19-38976603-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976603
    reference: chr 19
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5308T>G
  hgvsp: ENSP00000352608.2:p.Ser1770Ala
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5308T>G
  hgvsp: ENSP00000354254.3:p.Ser1770Ala
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5308T>G
  hgvsp: ENSP00000347667.3:p.Ser1770Ala
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1770Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

19-38976612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976612
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976612
    reference: chr 19
allele count: 132
allele frequency: 1.109840586533934e-3
allele num: 118936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5317C>T
  hgvsp: ENSP00000347667.3:p.Pro1773Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5317C>T
  hgvsp: ENSP00000354254.3:p.Pro1773Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5317C>T
  hgvsp: ENSP00000352608.2:p.Pro1773Ser
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36124
  bin: 9.75e1
  variant carriers: 132
hgvs: p.Pro1773Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

19-38976616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976616
    reference: chr 19
allele count: 22
allele frequency: 1.85104163160906e-4
allele num: 118852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5321C>T
  hgvsp: ENSP00000347667.3:p.Pro1774Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5321C>T
  hgvsp: ENSP00000352608.2:p.Pro1774Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5321C>T
  hgvsp: ENSP00000354254.3:p.Pro1774Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36079
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1774Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
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
site quality: VQSLOD

19-38976617-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976617
    reference: chr 19
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5322G>T
  hgvsp: ENST00000360985.3:c.5322G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5322G>T
  hgvsp: ENST00000355481.4:c.5322G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5322G>T
  hgvsp: ENST00000359596.3:c.5322G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1774Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-38976619-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976619
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976619
    reference: chr 19
allele count: 1
allele frequency: 8.415949908266146e-6
allele num: 118822
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5324A>G
  hgvsp: ENSP00000352608.2:p.His1775Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5324A>G
  hgvsp: ENSP00000354254.3:p.His1775Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5324A>G
  hgvsp: ENSP00000347667.3:p.His1775Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His1775Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-38976628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976628
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976628
    reference: chr 19
allele count: 1
allele frequency: 8.435117079425063e-6
allele num: 118552
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5333C>T
  hgvsp: ENSP00000352608.2:p.Ser1778Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5333C>T
  hgvsp: ENSP00000354254.3:p.Ser1778Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5333C>T
  hgvsp: ENSP00000347667.3:p.Ser1778Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36062
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1778Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

19-38976629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976629
    reference: chr 19
allele count: 2
allele frequency: 1.687820685930327e-5
allele num: 118496
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5334G>A
  hgvsp: ENST00000359596.3:c.5334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5334G>A
  hgvsp: ENST00000360985.3:c.5334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5334G>A
  hgvsp: ENST00000355481.4:c.5334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36737
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1778Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-38976629-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976629
    reference: chr 19
allele count: 2510
allele frequency: 2.11821496084256e-2
allele num: 118496
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5334G>T
  hgvsp: ENST00000360985.3:c.5334G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5334G>T
  hgvsp: ENST00000359596.3:c.5334G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5334G>T
  hgvsp: ENST00000355481.4:c.5334G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 2.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 5.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 4.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.25e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 6.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 6.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36737
  bin: 9.75e1
  variant carriers: 2153
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7729
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 14
hgvs: p.Ser1778Ser
num of homozygotes: 273
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-38976630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976630
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976630
    reference: chr 19
allele count: 1
allele frequency: 8.448229251148959e-6
allele num: 118368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5335C>T
  hgvsp: ENSP00000354254.3:p.Pro1779Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5335C>T
  hgvsp: ENSP00000352608.2:p.Pro1779Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5335C>T
  hgvsp: ENSP00000347667.3:p.Pro1779Ser
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 8.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro1779Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-38976631-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976631
    reference: chr 19
allele count: 1
allele frequency: 8.456087537418188e-6
allele num: 118258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5336C>A
  hgvsp: ENSP00000352608.2:p.Pro1779His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5336C>A
  hgvsp: ENSP00000347667.3:p.Pro1779His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5336C>A
  hgvsp: ENSP00000354254.3:p.Pro1779His
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 534
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1635
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2306
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 65
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7969
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1779His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/19-38976634-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976634
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976634
    reference: chr 19
allele count: 3
allele frequency: 2.537856357330175e-5
allele num: 118210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5339C>A
  hgvsp: ENSP00000352608.2:p.Pro1780His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5339C>A
  hgvsp: ENSP00000347667.3:p.Pro1780His
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5339C>A
  hgvsp: ENSP00000354254.3:p.Pro1780His
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7902
  bin: 6.25e1
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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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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1949
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
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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
  all individuals: 241
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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: 35697
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1780His
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-38976634-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976634
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976634
    reference: chr 19
allele count: 2
allele frequency: 1.691904238220117e-5
allele num: 118210
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5339C>G
  hgvsp: ENSP00000352608.2:p.Pro1780Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5339C>G
  hgvsp: ENSP00000354254.3:p.Pro1780Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5339C>G
  hgvsp: ENSP00000347667.3:p.Pro1780Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 786
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genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 675
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genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 80
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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: 35697
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1780Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-38976634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976634
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976634
    reference: chr 19
allele count: 1
allele frequency: 8.459521191100584e-6
allele num: 118210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5339C>T
  hgvsp: ENSP00000352608.2:p.Pro1780Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5339C>T
  hgvsp: ENSP00000347667.3:p.Pro1780Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5339C>T
  hgvsp: ENSP00000354254.3:p.Pro1780Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1780Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-38976634-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976634
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976632
    reference: chr 19
allele count: 1
allele frequency: 8.459521191100584e-6
allele num: 118210
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5340_5341delCT
  hgvsp: ENSP00000352608.2:p.Cys1781PhefsTer76
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5340_5341delCT
  hgvsp: ENSP00000347667.3:p.Cys1781PhefsTer76
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5340_5341delCT
  hgvsp: ENSP00000354254.3:p.Cys1781PhefsTer76
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys1781PhefsTer76
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: CCT
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

19-38976636-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976636
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976636
    reference: chr 19
allele count: 1
allele frequency: 8.467400508044031e-6
allele num: 118100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5341T>C
  hgvsp: ENSP00000354254.3:p.Cys1781Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5341T>C
  hgvsp: ENSP00000352608.2:p.Cys1781Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5341T>C
  hgvsp: ENSP00000347667.3:p.Cys1781Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys1781Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-38976641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976641
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976641
    reference: chr 19
allele count: 2
allele frequency: 1.699524133242692e-5
allele num: 117680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5346C>T
  hgvsp: ENST00000360985.3:c.5346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5346C>T
  hgvsp: ENST00000355481.4:c.5346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5346C>T
  hgvsp: ENST00000359596.3:c.5346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe1782Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

19-38976642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976642
    reference: chr 19
allele count: 1
allele frequency: 8.498487269266071e-6
allele num: 117668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5347G>A
  hgvsp: ENSP00000354254.3:p.Val1783Met
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5347G>A
  hgvsp: ENSP00000347667.3:p.Val1783Met
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5347G>A
  hgvsp: ENSP00000352608.2:p.Val1783Met
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1783Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-38976642-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976642
    reference: chr 19
allele count: 2
allele frequency: 1.699697453853214e-5
allele num: 117668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5347G>T
  hgvsp: ENSP00000354254.3:p.Val1783Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5347G>T
  hgvsp: ENSP00000352608.2:p.Val1783Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5347G>T
  hgvsp: ENSP00000347667.3:p.Val1783Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1783Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-38976646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976646
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976646
    reference: chr 19
allele count: 1
allele frequency: 8.518613169775961e-6
allele num: 117390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5351C>A
  hgvsp: ENSP00000347667.3:p.Ala1784Asp
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5351C>A
  hgvsp: ENSP00000354254.3:p.Ala1784Asp
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5351C>A
  hgvsp: ENSP00000352608.2:p.Ala1784Asp
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1784Asp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-38976655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38976655
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38976655
    reference: chr 19
allele count: 2283
allele frequency: 1.95710317868532e-2
allele num: 116652
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.5360C>T
  hgvsp: ENSP00000354254.3:p.Pro1787Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.5360C>T
  hgvsp: ENSP00000352608.2:p.Pro1787Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.5360C>T
  hgvsp: ENSP00000347667.3:p.Pro1787Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 5.25e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 5.75e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 7.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 4.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 3.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 6.75e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 6.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36392
  bin: 9.75e1
  variant carriers: 2227
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1787Leu
num of homozygotes: 46
population: African
reference allele: C

GenotypeQuality
all individuals: 3380
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65160
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
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: 10004
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: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 2.907633e6

FS
type: SiteQuality
SIO_000300: 1.673e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 2312
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65172
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.271e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 4.153e0

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 2.90706e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
all individuals: 3370
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
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: 10012
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 5.508e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.653e0

VQSLOD
type: SiteQuality
SIO_000300: -2.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
type: SiteQuality
SIO_000300: -1.176e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

DP
type: SiteQuality
SIO_000300: 2.907377e6

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
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: 65156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.079e-1

FS
type: SiteQuality
SIO_000300: 2.049e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

DP
type: SiteQuality
SIO_000300: 2.906874e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1611
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65146
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.518648838845883e-4
allele num: 8526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
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: 6604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.116e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

DP
type: SiteQuality
SIO_000300: 2.907074e6

VQSLOD
type: SiteQuality
SIO_000300: -7.597e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.942e0

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216989168796398e-4
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65102
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

DP
type: SiteQuality
SIO_000300: 2.906788e6

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.931e1

VQSLOD
type: SiteQuality
SIO_000300: -1.413e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
all individuals: 1614
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 65140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.90703e6

FS
type: SiteQuality
SIO_000300: 2.625e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.907086e6

FS
type: SiteQuality
SIO_000300: 7.536e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 36228
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535107918086642e-5
allele num: 65142
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: 8528
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.006823198876179e-4
allele num: 9966
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 5.428e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 2.907098e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
all individuals: 36230
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
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: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65198
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.111e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.909528e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 1

African
type: Population
allele count: 981
allele frequency: 9.802158273381295e-2
allele num: 10008
num of homozygotes: 56

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.29408336656136e-4
allele num: 65206
num of homozygotes: 0

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

Other
type: Population
allele count: 6
allele frequency: 6.741573033707865e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216693028348948e-4
allele num: 16438
num of homozygotes: 0

Latino
type: Population
allele count: 70
allele frequency: 6.096498867793067e-3
allele num: 11482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

FS
type: SiteQuality
SIO_000300: 1.183e0

DP
type: SiteQuality
SIO_000300: 2.934109e6

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.005615724027276e-4
allele num: 9972
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65198
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 890
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: 8528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

DP
type: SiteQuality
SIO_000300: 2.907283e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 1329
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65198
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: 6604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

DP
type: SiteQuality
SIO_000300: 2.9072e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

FS
type: SiteQuality
SIO_000300: 8.198e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.585e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.786e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.171e1

GenotypeQuality
all individuals: 8557
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
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: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533695285420693e-5
allele num: 65202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.003814495081309e-4
allele num: 9962
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.525e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 2.908072e6

GenotypeQuality
all individuals: 2256
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65202
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 2.908072e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e0

FS
type: SiteQuality
SIO_000300: 2.525e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 36081
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
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: 1
allele frequency: 1.57331655129012e-4
allele num: 6356
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.535390756947643e-5
allele num: 65130
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.092360180333861e-5
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Latino
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allele frequency: 0.0e0
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African
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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DP
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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South Asian
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Latino
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allele frequency: 0.0e0
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.536806516059628e-5
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num of homozygotes: 0

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

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

Latino
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allele 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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.542638528939899e-5
allele num: 64824
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Other
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allele num: 888
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East Asian
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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QD
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Latino
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African
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European (Finnish)
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ReadPosRankSum
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QD
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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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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African
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East Asian
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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 1.53477807109092e-5
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQ
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DP
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.533272002453235e-5
allele num: 65220
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQRankSum
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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MQ
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Other
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Latino
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European (Finnish)
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South Asian
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ClippingRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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FS
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QD
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeQuality
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African
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East Asian
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Latino
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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QD
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FS
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VQSLOD
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GenotypeQuality
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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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African
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East Asian
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FS
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QD
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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African
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South Asian
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MQRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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MQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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African
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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QD
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65378
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9946
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
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Latino
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allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

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

FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.906249e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 9918
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South Asian
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allele frequency: 1.219958521410272e-4
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8550
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.532050496384361e-5
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ClippingRankSum
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VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.902717e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.532473105097006e-5
allele num: 65254
num of homozygotes: 0

African
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allele frequency: 1.009081735620585e-4
allele num: 9910
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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QD
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.064664419246093e-5
allele num: 65260
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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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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VQSLOD
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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QD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.532238293699436e-5
allele num: 65264
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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MQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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: 6610
num of homozygotes: 0

Other
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South Asian
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allele frequency: 6.100536847242558e-5
allele num: 16392
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65254
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African
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allele frequency: 0.0e0
allele num: 9912
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Latino
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
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QD
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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Other
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European (Finnish)
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QD
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MQRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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South Asian
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Other
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African
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East Asian
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allele frequency: 9.358914365933552e-4
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Latino
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European (Non-Finnish)
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QD
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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MQRankSum
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VQSLOD
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GenotypeQuality
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East Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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African
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South Asian
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Latino
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Other
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East Asian
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allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 1.553e1

VQSLOD
type: SiteQuality
SIO_000300: -2.663e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.901157e6

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 130
allele frequency: 1.522248243559719e-2
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534165874014298e-5
allele num: 65182
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.109e0

QD
type: SiteQuality
SIO_000300: 1.137e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 2.899817e6

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65128
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 2.576715858514874e-3
allele num: 8538
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 2.894102e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535390756947643e-5
allele num: 65130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 3.19e0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 2.893321e6

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

DP
type: SiteQuality
SIO_000300: 2.891848e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.252e0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540499738115044e-5
allele num: 64914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.88545e6

VQSLOD
type: SiteQuality
SIO_000300: -1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

FS
type: SiteQuality
SIO_000300: 5.738e0

QD
type: SiteQuality
SIO_000300: 2.436e1

GenotypeQuality
all individuals: 1803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7729
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.083184312758217e-5
allele num: 64868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.834e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

QD
type: SiteQuality
SIO_000300: 1.421e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.894108e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1803
bin: 7.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.632916075723007e-4
allele num: 64868
num of homozygotes: 0

African
type: Population
allele count: 2280
allele frequency: 2.31990231990232e-1
allele num: 9828
num of homozygotes: 271

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

Latino
type: Population
allele count: 143
allele frequency: 1.250655938429246e-2
allele num: 11434
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
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South Asian
type: Population
allele count: 19
allele frequency: 1.161085309215351e-3
allele num: 16364
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.360544217687075e-2
allele num: 882
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 2.894108e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.834e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54206760424377e-5
allele num: 64848
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.829e1

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.861304e6

QD
type: SiteQuality
SIO_000300: 1.205e1

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: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9684
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.543686322939179e-5
allele num: 64780
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 880
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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East Asian
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allele count: 3
allele frequency: 3.523608174770966e-4
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64750
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 2.855911e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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num of homozygotes: 0

South Asian
type: Population
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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: 1.544401544401544e-5
allele num: 64750
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
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allele frequency: 1.033698573495969e-4
allele num: 9674
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

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

Other
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num of homozygotes: 0

African
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South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64750
num of homozygotes: 0

DP
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ClippingRankSum
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MQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64750
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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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

African
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allele frequency: 1.033698573495969e-4
allele num: 9674
num of homozygotes: 0

South Asian
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FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.662e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 2.855911e6

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545977366891349e-5
allele num: 64684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 2.852642e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.06e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 633
bin: 7.5e0
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.105300748377481e-5
allele num: 64406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 2.839607e6

FS
type: SiteQuality
SIO_000300: 2.618e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552891483943102e-5
allele num: 64396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.104e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 2.839247e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.269e0

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

GenotypeQuality
all individuals: 2265
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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: 9538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.105782967886204e-5
allele num: 64396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 2.839247e6

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.269e0

FS
type: SiteQuality
SIO_000300: 3.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
all individuals: 2258
bin: 7.75e1
variant carriers: 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: 16354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64204
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.055297593921486e-4
allele num: 9476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 2.122e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 2.831643e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 1732
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2196
bin: 8.25e1
variant carriers: 6

African
type: Population
allele count: 30
allele frequency: 3.224419604471195e-3
allele num: 9304
num of homozygotes: 0